Canonical Allele Identifier: CA377360179
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273857T>G , CM000672.2:g.80273857T>G GRCh38
NC_000010.10:g.82033613T>G , CM000672.1:g.82033613T>G GRCh37
NC_000010.9:g.82023593T>G NCBI36
NG_008083.1:g.20822A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1112A>C MANE Select ENSP00000361287.3:p.Tyr371Ser
ENST00000372213.7:c.1112A>C ENSP00000361287.3:p.Tyr371Ser
ENST00000480845.1:n.344A>C
ENST00000485270.5:n.624A>C
NM_000429.2:c.1112A>C NP_000420.1:p.Tyr371Ser
XM_005269842.3:c.1112A>C XP_005269899.1:p.Tyr371Ser
XM_005269843.3:c.989A>C XP_005269900.1:p.Tyr330Ser
NM_000429.3:c.1112A>C MANE Select NP_000420.1:p.Tyr371Ser