Canonical Allele Identifier: CA377360682

Gene: MAT1A

Linked Data

• dbSNP Id: rs1247294293
• gnomAD v2: 10-82034846-G-A
• gnomAD v4: 10-80275090-G-A
• MyVariant Identifiers: chr10:g.82034846G>A (hg19) ; chr10:g.80275090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275090G>A , CM000672.2:g.80275090G>A	GRCh38
NC_000010.10:g.82034846G>A , CM000672.1:g.82034846G>A	GRCh37
NC_000010.9:g.82024826G>A	NCBI36
NG_008083.1:g.19589C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372213.8:c.878C>T MANE Select	ENSP00000361287.3:p.Ser293Leu
ENST00000372213.7:c.878C>T	ENSP00000361287.3:p.Ser293Leu
ENST00000480845.1:n.110C>T
ENST00000485270.5:n.390C>T
NM_000429.2:c.878C>T	NP_000420.1:p.Ser293Leu
XM_005269842.3:c.878C>T	XP_005269899.1:p.Ser293Leu
XM_005269843.3:c.755C>T	XP_005269900.1:p.Ser252Leu
NM_000429.3:c.878C>T MANE Select	NP_000420.1:p.Ser293Leu