Canonical Allele Identifier: CA377362638
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280197C>A , CM000672.2:g.80280197C>A GRCh38
NC_000010.10:g.82039953C>A , CM000672.1:g.82039953C>A GRCh37
NC_000010.9:g.82029933C>A NCBI36
NG_008083.1:g.14482G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.525G>T MANE Select ENSP00000361287.3:p.Trp175Cys
ENST00000372213.7:c.525G>T ENSP00000361287.3:p.Trp175Cys
ENST00000455001.1:c.336G>T ENSP00000414961.1:p.Trp112Cys
NM_000429.2:c.525G>T NP_000420.1:p.Trp175Cys
XM_005269842.3:c.525G>T XP_005269899.1:p.Trp175Cys
XM_005269843.3:c.402G>T XP_005269900.1:p.Trp134Cys
NM_000429.3:c.525G>T MANE Select NP_000420.1:p.Trp175Cys