Canonical Allele Identifier: CA470467210

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80274522-G-T
• MyVariant Identifiers: chr10:g.82034278G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80274522G>T , CM000672.2:g.80274522G>T	GRCh38
NC_000010.10:g.82034278G>T , CM000672.1:g.82034278G>T	GRCh37
NC_000010.9:g.82024258G>T	NCBI36
NG_008083.1:g.20157C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1083C>A MANE Select	ENSP00000361287.3:p.Val361=
ENST00000372213.7:c.1083C>A	ENSP00000361287.3:p.Val361=
ENST00000480845.1:n.315C>A
ENST00000485270.5:n.595C>A
NM_000429.2:c.1083C>A	NP_000420.1:p.Val361=
XM_005269842.3:c.1083C>A	XP_005269899.1:p.Val361=
XM_005269843.3:c.960C>A	XP_005269900.1:p.Val320=
NM_000429.3:c.1083C>A MANE Select	NP_000420.1:p.Val361=