Canonical Allele Identifier: CA2609913142

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80275338-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275340del , CM000672.2:g.80275340del	GRCh38
NC_000010.10:g.82035096del , CM000672.1:g.82035096del	GRCh37
NC_000010.9:g.82025076del	NCBI36
NG_008083.1:g.19340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.769-140del MANE Select	ENSP00000361287.3:n.769-140del
ENST00000372213.7:c.769-140del	ENSP00000361287.3:n.769-140del
ENST00000485270.5:n.141del
NM_000429.2:c.769-140del	NP_000420.1:n.769-140del
XM_005269842.3:c.769-140del	XP_005269899.1:n.769-140del
XM_005269843.3:c.646-140del	XP_005269900.1:n.646-140del
NM_000429.3:c.769-140del MANE Select	NP_000420.1:n.769-140del