Canonical Allele Identifier: CA594711871

Gene: MAT1A

Linked Data

• dbSNP Id: rs1251883581
• gnomAD v2: 10-82034970-A-G
• gnomAD v3: 10-80275214-A-G
• gnomAD v4: 10-80275214-A-G
• MyVariant Identifiers: chr10:g.82034970A>G (hg19) ; chr10:g.80275214A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275214A>G , CM000672.2:g.80275214A>G	GRCh38
NC_000010.10:g.82034970A>G , CM000672.1:g.82034970A>G	GRCh37
NC_000010.9:g.82024950A>G	NCBI36
NG_008083.1:g.19465T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.769-15T>C MANE Select	ENSP00000361287.3:n.769-15T>C
ENST00000372213.7:c.769-15T>C	ENSP00000361287.3:n.769-15T>C
ENST00000485270.5:n.266T>C
NM_000429.2:c.769-15T>C	NP_000420.1:n.769-15T>C
XM_005269842.3:c.769-15T>C	XP_005269899.1:n.769-15T>C
XM_005269843.3:c.646-15T>C	XP_005269900.1:n.646-15T>C
NM_000429.3:c.769-15T>C MANE Select	NP_000420.1:n.769-15T>C