Canonical Allele Identifier: CA1515648331
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177441911A= , CM000666.2:g.177441911A= GRCh38
NC_000004.11:g.178363065A= , CM000666.1:g.178363065A= GRCh37
NC_000004.10:g.178600059A= NCBI36
NG_011845.2:g.5593T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.127+338T= MANE Select ENSP00000264595.2:n.127+338T=
ENST00000264595.6:c.127+338T= ENSP00000264595.2:n.127+338T=
ENST00000506853.5:n.161+338T=
ENST00000510955.5:n.161+338T=
ENST00000511231.1:n.161+338T=
NM_000027.3:c.127+338T= NP_000018.2:n.127+338T=
NM_001171988.1:c.127+338T= NP_001165459.1:n.127+338T=
NR_033655.1:n.255+338T=
XM_006714123.2:c.127+338T= XP_006714186.1:n.127+338T=
XR_001741155.2:n.221+338T=
NM_000027.4:c.127+338T= MANE Select NP_000018.2:n.127+338T=
NM_001171988.2:c.127+338T= NP_001165459.1:n.127+338T=
NR_033655.2:n.189+338T=