Canonical Allele Identifier: CA5576685
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2735425
ClinVar RCV Id: RCV003525314
dbSNP Id: rs372852106

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275094G>A , CM000672.2:g.80275094G>A GRCh38
NC_000010.10:g.82034850G>A , CM000672.1:g.82034850G>A GRCh37
NC_000010.9:g.82024830G>A NCBI36
NG_008083.1:g.19585C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.874C>T MANE Select ENSP00000361287.3:p.Arg292Cys
ENST00000372213.7:c.874C>T ENSP00000361287.3:p.Arg292Cys
ENST00000480845.1:n.106C>T
ENST00000485270.5:n.386C>T
NM_000429.2:c.874C>T NP_000420.1:p.Arg292Cys
XM_005269842.3:c.874C>T XP_005269899.1:p.Arg292Cys
XM_005269843.3:c.751C>T XP_005269900.1:p.Arg251Cys
NM_000429.3:c.874C>T MANE Select NP_000420.1:p.Arg292Cys