Canonical Allele Identifier: CA377362105

Gene: MAT1A

Linked Data

• MyVariant Identifiers: chr10:g.82036250T>A (hg19) ; chr10:g.80276494T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80276494T>A , CM000672.2:g.80276494T>A	GRCh38
NC_000010.10:g.82036250T>A , CM000672.1:g.82036250T>A	GRCh37
NC_000010.9:g.82026230T>A	NCBI36
NG_008083.1:g.18185A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.650A>T MANE Select	ENSP00000361287.3:p.Glu217Val
ENST00000372213.7:c.650A>T	ENSP00000361287.3:p.Glu217Val
NM_000429.2:c.650A>T	NP_000420.1:p.Glu217Val
XM_005269842.3:c.650A>T	XP_005269899.1:p.Glu217Val
XM_005269843.3:c.527A>T	XP_005269900.1:p.Glu176Val
NM_000429.3:c.650A>T MANE Select	NP_000420.1:p.Glu217Val