Canonical Allele Identifier: CA114841
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1210
ClinVar RCV Id: RCV000001269
dbSNP Id: rs118204005

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275178G>A , CM000672.2:g.80275178G>A GRCh38
NC_000010.10:g.82034934G>A , CM000672.1:g.82034934G>A GRCh37
NC_000010.9:g.82024914G>A NCBI36
NG_008083.1:g.19501C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.790C>T MANE Select ENSP00000361287.3:p.Arg264Cys
ENST00000372213.7:c.790C>T ENSP00000361287.3:p.Arg264Cys
ENST00000480845.1:n.22C>T
ENST00000485270.5:n.302C>T
NM_000429.2:c.790C>T NP_000420.1:p.Arg264Cys
XM_005269842.3:c.790C>T XP_005269899.1:p.Arg264Cys
XM_005269843.3:c.667C>T XP_005269900.1:p.Arg223Cys
NM_000429.3:c.790C>T MANE Select NP_000420.1:p.Arg264Cys