metabolism of cobalamin associated C [Source:HGNC Symbol;Acc:HGNC:24525]
CBLC, DKFZP564I122
Chromosome 1: 45,500,300-45,513,382 forward strand.
GRCh38:CM000663.2
This gene has 3 transcripts (splice variants), 196 orthologues and is associated with 3 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000401061.9 | MMACHC-201 | 5049 | 282aa | ENSP00000383840.4 | Protein coding | CCDS41324 | Q9Y4U1 | NM_015506.3 | MANE Select, Ensembl Canonical, GENCODE Primary, GENCODE Basic, APPRIS P1, TSL:2, |
ENST00000616135.1 | MMACHC-203 | 1510 | 225aa | ENSP00000478859.1 | Protein coding | CCDS81315 | A0A0C4DGU2 | - | GENCODE Primary, GENCODE Basic, TSL:2, |
ENST00000477188.1 | MMACHC-202 | 607 | No protein | - | Protein coding CDS not defined | - | - | TSL:3, |