Canonical Allele Identifier: CA2609913823

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80280119-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280124del , CM000672.2:g.80280124del	GRCh38
NC_000010.10:g.82039880del , CM000672.1:g.82039880del	GRCh37
NC_000010.9:g.82029860del	NCBI36
NG_008083.1:g.14559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.549+53del MANE Select	ENSP00000361287.3:n.549+53del
ENST00000372213.7:c.549+53del	ENSP00000361287.3:n.549+53del
ENST00000455001.1:c.360+53del	ENSP00000414961.1:n.360+53del
NM_000429.2:c.549+53del	NP_000420.1:n.549+53del
XM_005269842.3:c.549+53del	XP_005269899.1:n.549+53del
XM_005269843.3:c.426+53del	XP_005269900.1:n.426+53del
NM_000429.3:c.549+53del MANE Select	NP_000420.1:n.549+53del