Canonical Allele Identifier: CA1515649012
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442217C= , CM000666.2:g.177442217C= GRCh38
NC_000004.11:g.178363371C= , CM000666.1:g.178363371C= GRCh37
NC_000004.10:g.178600365C= NCBI36
NG_011845.2:g.5287G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.127+32G= MANE Select ENSP00000264595.2:n.127+32G=
ENST00000264595.6:c.127+32G= ENSP00000264595.2:n.127+32G=
ENST00000506853.5:n.161+32G=
ENST00000510955.5:n.161+32G=
ENST00000511231.1:n.161+32G=
NM_000027.3:c.127+32G= NP_000018.2:n.127+32G=
NM_001171988.1:c.127+32G= NP_001165459.1:n.127+32G=
NR_033655.1:n.255+32G=
XM_006714123.2:c.127+32G= XP_006714186.1:n.127+32G=
XR_001741155.2:n.221+32G=
NM_000027.4:c.127+32G= MANE Select NP_000018.2:n.127+32G=
NM_001171988.2:c.127+32G= NP_001165459.1:n.127+32G=
NR_033655.2:n.189+32G=