Canonical Allele Identifier: CA1515643319
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438673C= , CM000666.2:g.177438673C= GRCh38
NC_000004.11:g.178359827C= , CM000666.1:g.178359827C= GRCh37
NC_000004.10:g.178596821C= NCBI36
NG_011845.2:g.8831G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.507+72G= MANE Select ENSP00000264595.2:n.507+72G=
ENST00000264595.6:c.507+72G= ENSP00000264595.2:n.507+72G=
ENST00000502310.5:c.162+72G= ENSP00000423798.1:n.162+72G=
ENST00000506853.5:n.541+72G=
ENST00000510635.1:c.203+72G=
ENST00000510955.5:n.428+72G=
NM_000027.3:c.507+72G= NP_000018.2:n.507+72G=
NM_001171988.1:c.507+72G= NP_001165459.1:n.507+72G=
NR_033655.1:n.635+72G=
XM_006714123.2:c.507+72G= XP_006714186.1:n.507+72G=
XR_001741155.2:n.601+72G=
NM_000027.4:c.507+72G= MANE Select NP_000018.2:n.507+72G=
NM_001171988.2:c.507+72G= NP_001165459.1:n.507+72G=
NR_033655.2:n.569+72G=