Canonical Allele Identifier: CA470467481

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80276466-G-T
• COSMIC: COSM6130397
• MyVariant Identifiers: chr10:g.82036222G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80276466G>T , CM000672.2:g.80276466G>T	GRCh38
NC_000010.10:g.82036222G>T , CM000672.1:g.82036222G>T	GRCh37
NC_000010.9:g.82026202G>T	NCBI36
NG_008083.1:g.18213C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.678C>A MANE Select	ENSP00000361287.3:p.Val226=
ENST00000372213.7:c.678C>A	ENSP00000361287.3:p.Val226=
NM_000429.2:c.678C>A	NP_000420.1:p.Val226=
XM_005269842.3:c.678C>A	XP_005269899.1:p.Val226=
XM_005269843.3:c.555C>A	XP_005269900.1:p.Val185=
NM_000429.3:c.678C>A MANE Select	NP_000420.1:p.Val226=