Canonical Allele Identifier: CA377360845
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275157A>G , CM000672.2:g.80275157A>G GRCh38
NC_000010.10:g.82034913A>G , CM000672.1:g.82034913A>G GRCh37
NC_000010.9:g.82024893A>G NCBI36
NG_008083.1:g.19522T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.811T>C MANE Select ENSP00000361287.3:p.Tyr271His
ENST00000372213.7:c.811T>C ENSP00000361287.3:p.Tyr271His
ENST00000480845.1:n.43T>C
ENST00000485270.5:n.323T>C
NM_000429.2:c.811T>C NP_000420.1:p.Tyr271His
XM_005269842.3:c.811T>C XP_005269899.1:p.Tyr271His
XM_005269843.3:c.688T>C XP_005269900.1:p.Tyr230His
NM_000429.3:c.811T>C MANE Select NP_000420.1:p.Tyr271His