Canonical Allele Identifier: CA377360867

Gene: MAT1A

Linked Data

• MyVariant Identifiers: chr10:g.82034919C>A (hg19) ; chr10:g.80275163C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275163C>A , CM000672.2:g.80275163C>A	GRCh38
NC_000010.10:g.82034919C>A , CM000672.1:g.82034919C>A	GRCh37
NC_000010.9:g.82024899C>A	NCBI36
NG_008083.1:g.19516G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.805G>T MANE Select	ENSP00000361287.3:p.Asp269Tyr
ENST00000372213.7:c.805G>T	ENSP00000361287.3:p.Asp269Tyr
ENST00000480845.1:n.37G>T
ENST00000485270.5:n.317G>T
NM_000429.2:c.805G>T	NP_000420.1:p.Asp269Tyr
XM_005269842.3:c.805G>T	XP_005269899.1:p.Asp269Tyr
XM_005269843.3:c.682G>T	XP_005269900.1:p.Asp228Tyr
NM_000429.3:c.805G>T MANE Select	NP_000420.1:p.Asp269Tyr