Canonical Allele Identifier: CA5576621
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2429436
ClinVar RCV Id: RCV003126373
dbSNP Id: rs138742870

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80274538C>T , CM000672.2:g.80274538C>T GRCh38
NC_000010.10:g.82034294C>T , CM000672.1:g.82034294C>T GRCh37
NC_000010.9:g.82024274C>T NCBI36
NG_008083.1:g.20141G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1067G>A MANE Select ENSP00000361287.3:p.Arg356Gln
ENST00000372213.7:c.1067G>A ENSP00000361287.3:p.Arg356Gln
ENST00000480845.1:n.299G>A
ENST00000485270.5:n.579G>A
NM_000429.2:c.1067G>A NP_000420.1:p.Arg356Gln
XM_005269842.3:c.1067G>A XP_005269899.1:p.Arg356Gln
XM_005269843.3:c.944G>A XP_005269900.1:p.Arg315Gln
NM_000429.3:c.1067G>A MANE Select NP_000420.1:p.Arg356Gln