Human (GRCh38.p14)
Description

hydroxymethylbilane synthase [Source:HGNC Symbol;Acc:HGNC:4982]

Gene Synonyms

PBGD, PORC, UPS

About this transcript

This transcript has 13 exons, is annotated with 15 domains and features, is associated with 5013 variant alleles and maps to 421 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000652429.1HMBS-2321505361aaENSP00000498786.1
 
Protein coding
CCDS8409P08397-1 NM_000190.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P3
ENST00000686218.1HMBS-2332173306aaENSP00000509288.1
 
Protein coding
A0A8I5KXV4 -GENCODE basic
ENST00000650101.1HMBS-2301936338aaENSP00000496970.1
 
Protein coding
A0A3B3IRR1 -GENCODE basic
ENST00000537841.5HMBS-2081559344aaENSP00000444730.1
 
Protein coding
CCDS41726P08397-2 -GENCODE basicTSL:5
ENST00000648374.1HMBS-2261477344aaENSP00000497255.1
 
Protein coding
CCDS41726P08397-2 -GENCODE basic
ENST00000542729.5HMBS-2121469304aaENSP00000443058.1
 
Protein coding
CCDS58187P08397-4 -GENCODE basicTSL:2
ENST00000442944.7HMBS-2021448355aaENSP00000392041.3
 
Protein coding
A0A3F2YNY7 -GENCODE basicAPPRIS ALT1TSL:5
ENST00000392841.1HMBS-2011411344aaENSP00000376584.1
 
Protein coding
CCDS41726P08397-2 -GENCODE basicTSL:1
ENST00000544387.5HMBS-2191351321aaENSP00000438424.1
 
Protein coding
CCDS58186P08397-3 -GENCODE basicTSL:2
ENST00000543090.5HMBS-2141347330aaENSP00000445429.1
 
Protein coding
F5H345 -GENCODE basicTSL:5
ENST00000536813.6HMBS-207941228aaENSP00000438726.2
 
Protein coding
F5H0P4 -TSL:3CDS 3' incomplete
ENST00000535253.5HMBS-204755187aaENSP00000442079.1
 
Protein coding
F5GY90 -TSL:4CDS 3' incomplete
ENST00000546302.6HMBS-223707191aaENSP00000445599.1
 
Protein coding
F5H226 -TSL:5CDS 3' incomplete
ENST00000640813.1HMBS-2241283190aaENSP00000491061.1
 
Nonsense mediated decay
A0A1W2PNU5 -TSL:5
ENST00000545621.5HMBS-220128281aaENSP00000444849.1
 
Nonsense mediated decay
F5H4X2 -TSL:1
ENST00000648026.1HMBS-2251180218aaENSP00000498044.1
 
Nonsense mediated decay
A0A3B3IU34 -CDS 5' incomplete
ENST00000542822.5HMBS-21393681aaENSP00000444817.1
 
Nonsense mediated decay
F5H4Y7 -TSL:5
ENST00000535793.5HMBS-20583263aaENSP00000439904.1
 
Nonsense mediated decay
F5H4W5 -TSL:5
ENST00000648488.1HMBS-227690151aaENSP00000498079.1
 
Nonsense mediated decay
A0A3B3IU56 --
ENST00000649868.1HMBS-22952948aaENSP00000497548.1
 
Nonsense mediated decay
A0A3B3IT17 --
ENST00000534956.2HMBS-203580No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000536185.5HMBS-206441No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000691144.1HMBS-2353543No protein-
 
Retained intron
---
ENST00000691249.1HMBS-2362163No protein-
 
Retained intron
---
ENST00000650307.1HMBS-2312130No protein-
 
Retained intron
---
ENST00000546226.5HMBS-2222112No protein-
 
Retained intron
--TSL:2
ENST00000686690.1HMBS-2341908No protein-
 
Retained intron
---
ENST00000543543.5HMBS-2151796No protein-
 
Retained intron
--TSL:5
ENST00000542044.5HMBS-2101544No protein-
 
Retained intron
--TSL:5
ENST00000544182.1HMBS-2171542No protein-
 
Retained intron
--TSL:2
ENST00000649823.1HMBS-2281298No protein-
 
Retained intron
---
ENST00000542345.5HMBS-211882No protein-
 
Retained intron
--TSL:3
ENST00000539045.1HMBS-209845No protein-
 
Retained intron
--TSL:2
ENST00000544360.5HMBS-218695No protein-
 
Retained intron
--TSL:3
ENST00000545901.5HMBS-221581No protein-
 
Retained intron
--TSL:1
ENST00000543821.5HMBS-216562No protein-
 
Retained intron
--TSL:4
Statistics

Exons: 13, Coding exons: 12, Transcript length: 1,469 bps, Translation length: 304 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P08397

CCDS

This transcript is a member of the Human CCDS set: CCDS58187

Transcript Support Level (TSL)

TSL:2

Version

ENST00000542729.5

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.