Canonical Allele Identifier: CA2672748359

Gene: AGA

Linked Data

• gnomAD v4: 4-177440242-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440243dup , CM000666.2:g.177440243dup	GRCh38
NC_000004.11:g.178361397dup , CM000666.1:g.178361397dup	GRCh37
NC_000004.10:g.178598391dup	NCBI36
NG_011845.2:g.7261dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.281+30dup MANE Select	ENSP00000264595.2:n.281+30dup
ENST00000264595.6:c.281+30dup	ENSP00000264595.2:n.281+30dup
ENST00000506853.5:n.315+30dup
ENST00000510955.5:n.315+30dup
ENST00000511231.1:n.345dup
NM_000027.3:c.281+30dup	NP_000018.2:n.281+30dup
NM_001171988.1:c.281+30dup	NP_001165459.1:n.281+30dup
NR_033655.1:n.409+30dup
XM_006714123.2:c.281+30dup	XP_006714186.1:n.281+30dup
XR_001741155.2:n.375+30dup
NM_000027.4:c.281+30dup MANE Select	NP_000018.2:n.281+30dup
NM_001171988.2:c.281+30dup	NP_001165459.1:n.281+30dup
NR_033655.2:n.343+30dup