Canonical Allele Identifier: CA110789996
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs35107911

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439209dup , CM000666.2:g.177439209dup GRCh38
NC_000004.11:g.178360363dup , CM000666.1:g.178360363dup GRCh37
NC_000004.10:g.178597357dup NCBI36
NG_011845.2:g.8298dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.395-349dup MANE Select ENSP00000264595.2:n.395-349dup
ENST00000264595.6:c.395-349dup ENSP00000264595.2:n.395-349dup
ENST00000502310.5:c.50-349dup ENSP00000423798.1:n.50-349dup
ENST00000506853.5:n.429-349dup
ENST00000510635.1:c.91-349dup
ENST00000510955.5:n.316-349dup
NM_000027.3:c.395-349dup NP_000018.2:n.395-349dup
NM_001171988.1:c.395-349dup NP_001165459.1:n.395-349dup
NR_033655.1:n.523-349dup
XM_006714123.2:c.395-349dup XP_006714186.1:n.395-349dup
XR_001741155.2:n.489-349dup
NM_000027.4:c.395-349dup MANE Select NP_000018.2:n.395-349dup
NM_001171988.2:c.395-349dup NP_001165459.1:n.395-349dup
NR_033655.2:n.457-349dup