Canonical Allele Identifier: CA2609913484

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80275486-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275487_80275488del , CM000672.2:g.80275487_80275488del	GRCh38
NC_000010.10:g.82035243_82035244del , CM000672.1:g.82035243_82035244del	GRCh37
NC_000010.9:g.82025223_82025224del	NCBI36
NG_008083.1:g.19191_19192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.769-289_769-288del MANE Select	ENSP00000361287.3:n.769-289_769-288del
ENST00000372213.7:c.769-289_769-288del	ENSP00000361287.3:n.769-289_769-288del
NM_000429.2:c.769-289_769-288del	NP_000420.1:n.769-289_769-288del
XM_005269842.3:c.769-289_769-288del	XP_005269899.1:n.769-289_769-288del
XM_005269843.3:c.646-289_646-288del	XP_005269900.1:n.646-289_646-288del
NM_000429.3:c.769-289_769-288del MANE Select	NP_000420.1:n.769-289_769-288del