Canonical Allele Identifier: CA2609913022

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80275253-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275258del , CM000672.2:g.80275258del	GRCh38
NC_000010.10:g.82035014del , CM000672.1:g.82035014del	GRCh37
NC_000010.9:g.82024994del	NCBI36
NG_008083.1:g.19425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.769-55del MANE Select	ENSP00000361287.3:n.769-55del
ENST00000372213.7:c.769-55del	ENSP00000361287.3:n.769-55del
ENST00000485270.5:n.226del
NM_000429.2:c.769-55del	NP_000420.1:n.769-55del
XM_005269842.3:c.769-55del	XP_005269899.1:n.769-55del
XM_005269843.3:c.646-55del	XP_005269900.1:n.646-55del
NM_000429.3:c.769-55del MANE Select	NP_000420.1:n.769-55del