Canonical Allele Identifier: CA377362748

Gene: MAT1A

Linked Data

• ClinVar Variation Id: 2429440
• ClinVar RCV Id: RCV003126377
• MyVariant Identifiers: chr10:g.82040008G>A (hg19) ; chr10:g.80280252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280252G>A , CM000672.2:g.80280252G>A	GRCh38
NC_000010.10:g.82040008G>A , CM000672.1:g.82040008G>A	GRCh37
NC_000010.9:g.82029988G>A	NCBI36
NG_008083.1:g.14427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.470C>T MANE Select	ENSP00000361287.3:p.Ala157Val
ENST00000372213.7:c.470C>T	ENSP00000361287.3:p.Ala157Val
ENST00000455001.1:c.281C>T	ENSP00000414961.1:p.Ala94Val
NM_000429.2:c.470C>T	NP_000420.1:p.Ala157Val
XM_005269842.3:c.470C>T	XP_005269899.1:p.Ala157Val
XM_005269843.3:c.347C>T	XP_005269900.1:p.Ala116Val
NM_000429.3:c.470C>T MANE Select	NP_000420.1:p.Ala157Val