Canonical Allele Identifier: CA2609912424

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80273450-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273450G>A , CM000672.2:g.80273450G>A	GRCh38
NC_000010.10:g.82033206G>A , CM000672.1:g.82033206G>A	GRCh37
NC_000010.9:g.82023186G>A	NCBI36
NG_008083.1:g.21229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.*331C>T MANE Select	ENSP00000361287.3:n.*331C>T
ENST00000372213.7:c.*331C>T	ENSP00000361287.3:n.*331C>T
ENST00000480845.1:n.620+131C>T
ENST00000485270.5:n.1031C>T
NM_000429.2:c.*331C>T	NP_000420.1:n.*331C>T
XM_005269842.3:c.*331C>T	XP_005269899.1:n.*331C>T
XM_005269843.3:c.*331C>T	XP_005269900.1:n.*331C>T
NM_000429.3:c.*331C>T MANE Select	NP_000420.1:n.*331C>T