Canonical Allele Identifier: CA2672747638

Gene: AGA

Linked Data

• gnomAD v4: 4-177438876-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438879dup , CM000666.2:g.177438879dup	GRCh38
NC_000004.11:g.178360033dup , CM000666.1:g.178360033dup	GRCh37
NC_000004.10:g.178597027dup	NCBI36
NG_011845.2:g.8627dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.395-20dup MANE Select	ENSP00000264595.2:n.395-20dup
ENST00000264595.6:c.395-20dup	ENSP00000264595.2:n.395-20dup
ENST00000502310.5:c.50-20dup	ENSP00000423798.1:n.50-20dup
ENST00000506853.5:n.429-20dup
ENST00000510635.1:c.91-20dup
ENST00000510955.5:n.316-20dup
NM_000027.3:c.395-20dup	NP_000018.2:n.395-20dup
NM_001171988.1:c.395-20dup	NP_001165459.1:n.395-20dup
NR_033655.1:n.523-20dup
XM_006714123.2:c.395-20dup	XP_006714186.1:n.395-20dup
XR_001741155.2:n.489-20dup
NM_000027.4:c.395-20dup MANE Select	NP_000018.2:n.395-20dup
NM_001171988.2:c.395-20dup	NP_001165459.1:n.395-20dup
NR_033655.2:n.457-20dup