Canonical Allele Identifier: CA110790010
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs35101180

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439240dup , CM000666.2:g.177439240dup GRCh38
NC_000004.11:g.178360394dup , CM000666.1:g.178360394dup GRCh37
NC_000004.10:g.178597388dup NCBI36
NG_011845.2:g.8266dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.394+338dup MANE Select ENSP00000264595.2:n.394+338dup
ENST00000264595.6:c.394+338dup ENSP00000264595.2:n.394+338dup
ENST00000502310.5:c.49+338dup ENSP00000423798.1:n.49+338dup
ENST00000506853.5:n.428+338dup
ENST00000510635.1:c.90+338dup
ENST00000510955.5:n.316-381dup
NM_000027.3:c.394+338dup NP_000018.2:n.394+338dup
NM_001171988.1:c.394+338dup NP_001165459.1:n.394+338dup
NR_033655.1:n.522+338dup
XM_006714123.2:c.394+338dup XP_006714186.1:n.394+338dup
XR_001741155.2:n.488+338dup
NM_000027.4:c.394+338dup MANE Select NP_000018.2:n.394+338dup
NM_001171988.2:c.394+338dup NP_001165459.1:n.394+338dup
NR_033655.2:n.456+338dup