Description

hemochromatosis [Source:HGNC Symbol;Acc:HGNC:4886]

Synonyms

HLA-H

Location
Gene

This transcript is a product of gene ENSG00000010704

This gene has 14 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDbpProteinBiotypeCCDSUniProtRefSeqFlags
HFE-001ENST000003576185286348 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS4578F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 I1VA60
I1VA63 I1VA66 I1VA72
Q30201 Q86WL1 Q8MH46
Q9BXI5 Q9UK37
NM_000410
NP_000401
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CI2APPRIS candidate principal isoform (longest CCDS)
Glossary entry for APPRIS
APPRIS website
HFE-006ENST000003178961922256 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS4579F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 I1VA60
I1VA63 I1VA66 Q30201
Q8MH46 Q9BXI5 Q9UK37
NM_139004
NP_620573
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HFE-004ENST000003499991704260 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS4580G3LGQ9 G3LGR0 G3LGR1
H2E8T5 I1VA60 I1VA63
I1VA66 I1VA72 Q30201
Q8MH46 Q9BXI5 Q9UK37
NM_139007
NP_620576
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HFE-005ENST000003970221280325 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS47387G3LGQ9 G3LGR0 G3LGR1
H2E8T5 I1VA55 I1VA56
I1VA60 I1VA63 I1VA66
I1VA72 Q30201 Q86WL1
Q8MH46 Q9BXI5 Q9UK37
NM_139009
NP_620578
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HFE-019ENST000003092341158337 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS75412F5B2M9 F8W7W8 G3LGQ6
H2E8T5 I1VA55 I1VA56
I1VA60 I1VA63 I1VA66
I1VA72 Q8MH46 Q9BXI5
Q9UK37
NM_001300749
NP_001287678
TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CIAPPRIS candidate principal isoform
Glossary entry for APPRIS
APPRIS website
HFE-014ENST000004613971045334 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS54974F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 I1VA72
Q30201
NM_139006
NP_620575
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HFE-007ENST00000353147809168 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS4581G3LGQ9 G3LGR0 G3LGR1
H2E8T5 I1VA60 I1VA63
I1VA66 Q30201 Q8MH46
Q9BXI5 Q9UK37
NM_139010
NP_620579
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HFE-012ENST00000336625804242 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS47386F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 Q30201
NM_139003
NP_620572
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HFE-015ENST00000488199781246 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS54975G3LGQ9 G3LGR0 G3LGR1
H2E8T5 I1VA72 Q30201
NM_139008
NP_620577
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HFE-003ENST0000035239265376 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS4582H2E8T5 Q30201 NM_139011
NP_620580
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HFE-011ENST000004701491123345 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 I1VA72
Q6B0J5
-TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HFE-024ENST0000048572977755 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H7C4K4 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

HFE-017ENST000004837821245No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

HFE-013ENST00000486147987No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Protein domains for ENSP00000313776.7

Transcript-based displays