Canonical Allele Identifier: CA377362658

Gene: MAT1A

Linked Data

• MyVariant Identifiers: chr10:g.82039964G>A (hg19) ; chr10:g.80280208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280208G>A , CM000672.2:g.80280208G>A	GRCh38
NC_000010.10:g.82039964G>A , CM000672.1:g.82039964G>A	GRCh37
NC_000010.9:g.82029944G>A	NCBI36
NG_008083.1:g.14471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.514C>T MANE Select	ENSP00000361287.3:p.Leu172Phe
ENST00000372213.7:c.514C>T	ENSP00000361287.3:p.Leu172Phe
ENST00000455001.1:c.325C>T	ENSP00000414961.1:p.Leu109Phe
NM_000429.2:c.514C>T	NP_000420.1:p.Leu172Phe
XM_005269842.3:c.514C>T	XP_005269899.1:p.Leu172Phe
XM_005269843.3:c.391C>T	XP_005269900.1:p.Leu131Phe
NM_000429.3:c.514C>T MANE Select	NP_000420.1:p.Leu172Phe