Canonical Allele Identifier: CA2609912536

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80273546-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273549del , CM000672.2:g.80273549del	GRCh38
NC_000010.10:g.82033305del , CM000672.1:g.82033305del	GRCh37
NC_000010.9:g.82023285del	NCBI36
NG_008083.1:g.21132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.*234del MANE Select	ENSP00000361287.3:n.*234del
ENST00000372213.7:c.*234del	ENSP00000361287.3:n.*234del
ENST00000480845.1:n.620+34del
ENST00000485270.5:n.934del
NM_000429.2:c.*234del	NP_000420.1:n.*234del
XM_005269842.3:c.*234del	XP_005269899.1:n.*234del
XM_005269843.3:c.*234del	XP_005269900.1:n.*234del
NM_000429.3:c.*234del MANE Select	NP_000420.1:n.*234del