Canonical Allele Identifier: CA470468216

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80280215-G-A
• MyVariant Identifiers: chr10:g.82039971G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280215G>A , CM000672.2:g.80280215G>A	GRCh38
NC_000010.10:g.82039971G>A , CM000672.1:g.82039971G>A	GRCh37
NC_000010.9:g.82029951G>A	NCBI36
NG_008083.1:g.14464C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.507C>T MANE Select	ENSP00000361287.3:p.Arg169=
ENST00000372213.7:c.507C>T	ENSP00000361287.3:p.Arg169=
ENST00000455001.1:c.318C>T	ENSP00000414961.1:p.Arg106=
NM_000429.2:c.507C>T	NP_000420.1:p.Arg169=
XM_005269842.3:c.507C>T	XP_005269899.1:p.Arg169=
XM_005269843.3:c.384C>T	XP_005269900.1:p.Arg128=
NM_000429.3:c.507C>T MANE Select	NP_000420.1:p.Arg169=