Canonical Allele Identifier: CA1515646494

Gene: AGA

Linked Data

• dbSNP Id: rs1736971730

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440665dup , CM000666.2:g.177440665dup	GRCh38
NC_000004.11:g.178361819dup , CM000666.1:g.178361819dup	GRCh37
NC_000004.10:g.178598813dup	NCBI36
NG_011845.2:g.6839dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-239dup MANE Select	ENSP00000264595.2:n.128-239dup
ENST00000264595.6:c.128-239dup	ENSP00000264595.2:n.128-239dup
ENST00000506853.5:n.162-239dup
ENST00000510955.5:n.162-239dup
ENST00000511231.1:n.162-239dup
NM_000027.3:c.128-239dup	NP_000018.2:n.128-239dup
NM_001171988.1:c.128-239dup	NP_001165459.1:n.128-239dup
NR_033655.1:n.256-239dup
XM_006714123.2:c.128-239dup	XP_006714186.1:n.128-239dup
XR_001741155.2:n.222-239dup
NM_000027.4:c.128-239dup MANE Select	NP_000018.2:n.128-239dup
NM_001171988.2:c.128-239dup	NP_001165459.1:n.128-239dup
NR_033655.2:n.190-239dup