Canonical Allele Identifier: CA377360944
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275186A>T , CM000672.2:g.80275186A>T GRCh38
NC_000010.10:g.82034942A>T , CM000672.1:g.82034942A>T GRCh37
NC_000010.9:g.82024922A>T NCBI36
NG_008083.1:g.19493T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.782T>A MANE Select ENSP00000361287.3:p.Val261Asp
ENST00000372213.7:c.782T>A ENSP00000361287.3:p.Val261Asp
ENST00000480845.1:n.14T>A
ENST00000485270.5:n.294T>A
NM_000429.2:c.782T>A NP_000420.1:p.Val261Asp
XM_005269842.3:c.782T>A XP_005269899.1:p.Val261Asp
XM_005269843.3:c.659T>A XP_005269900.1:p.Val220Asp
NM_000429.3:c.782T>A MANE Select NP_000420.1:p.Val261Asp