Canonical Allele Identifier: CA1515646630
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1736977653

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440770dup , CM000666.2:g.177440770dup GRCh38
NC_000004.11:g.178361924dup , CM000666.1:g.178361924dup GRCh37
NC_000004.10:g.178598918dup NCBI36
NG_011845.2:g.6739dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-339dup MANE Select ENSP00000264595.2:n.128-339dup
ENST00000264595.6:c.128-339dup ENSP00000264595.2:n.128-339dup
ENST00000506853.5:n.162-339dup
ENST00000510955.5:n.162-339dup
ENST00000511231.1:n.162-339dup
NM_000027.3:c.128-339dup NP_000018.2:n.128-339dup
NM_001171988.1:c.128-339dup NP_001165459.1:n.128-339dup
NR_033655.1:n.256-339dup
XM_006714123.2:c.128-339dup XP_006714186.1:n.128-339dup
XR_001741155.2:n.222-339dup
NM_000027.4:c.128-339dup MANE Select NP_000018.2:n.128-339dup
NM_001171988.2:c.128-339dup NP_001165459.1:n.128-339dup
NR_033655.2:n.190-339dup