Canonical Allele Identifier: CA377362831
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280288T>A , CM000672.2:g.80280288T>A GRCh38
NC_000010.10:g.82040044T>A , CM000672.1:g.82040044T>A GRCh37
NC_000010.9:g.82030024T>A NCBI36
NG_008083.1:g.14391A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.434A>T MANE Select ENSP00000361287.3:p.Glu145Val
ENST00000372213.7:c.434A>T ENSP00000361287.3:p.Glu145Val
ENST00000455001.1:c.245A>T ENSP00000414961.1:p.Glu82Val
NM_000429.2:c.434A>T NP_000420.1:p.Glu145Val
XM_005269842.3:c.434A>T XP_005269899.1:p.Glu145Val
XM_005269843.3:c.311A>T XP_005269900.1:p.Glu104Val
NM_000429.3:c.434A>T MANE Select NP_000420.1:p.Glu145Val