Canonical Allele Identifier: CA377360760

Gene: MAT1A

Linked Data

• MyVariant Identifiers: chr10:g.82034882G>T (hg19) ; chr10:g.80275126G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275126G>T , CM000672.2:g.80275126G>T	GRCh38
NC_000010.10:g.82034882G>T , CM000672.1:g.82034882G>T	GRCh37
NC_000010.9:g.82024862G>T	NCBI36
NG_008083.1:g.19553C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.842C>A MANE Select	ENSP00000361287.3:p.Ala281Asp
ENST00000372213.7:c.842C>A	ENSP00000361287.3:p.Ala281Asp
ENST00000480845.1:n.74C>A
ENST00000485270.5:n.354C>A
NM_000429.2:c.842C>A	NP_000420.1:p.Ala281Asp
XM_005269842.3:c.842C>A	XP_005269899.1:p.Ala281Asp
XM_005269843.3:c.719C>A	XP_005269900.1:p.Ala240Asp
NM_000429.3:c.842C>A MANE Select	NP_000420.1:p.Ala281Asp