Canonical Allele Identifier: CA2609913376

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80274974-GTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80274978_80274980del , CM000672.2:g.80274978_80274980del	GRCh38
NC_000010.10:g.82034734_82034736del , CM000672.1:g.82034734_82034736del	GRCh37
NC_000010.9:g.82024714_82024716del	NCBI36
NG_008083.1:g.19702_19704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.951+40_951+42del MANE Select	ENSP00000361287.3:n.951+40_951+42del
ENST00000372213.7:c.951+40_951+42del	ENSP00000361287.3:n.951+40_951+42del
ENST00000480845.1:n.183+40_183+42del
ENST00000485270.5:n.463+40_463+42del
NM_000429.2:c.951+40_951+42del	NP_000420.1:n.951+40_951+42del
XM_005269842.3:c.951+40_951+42del	XP_005269899.1:n.951+40_951+42del
XM_005269843.3:c.828+40_828+42del	XP_005269900.1:n.828+40_828+42del
NM_000429.3:c.951+40_951+42del MANE Select	NP_000420.1:n.951+40_951+42del