Canonical Allele Identifier: CA1515649183
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442258T= , CM000666.2:g.177442258T= GRCh38
NC_000004.11:g.178363412T= , CM000666.1:g.178363412T= GRCh37
NC_000004.10:g.178600406T= NCBI36
NG_011845.2:g.5246A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.118A= MANE Select ENSP00000264595.2:p.Thr40=
ENST00000264595.6:c.118A= ENSP00000264595.2:p.Thr40=
ENST00000506853.5:n.152A=
ENST00000510955.5:n.152A=
ENST00000511231.1:n.152A=
NM_000027.3:c.118A= NP_000018.2:p.Thr40=
NM_001171988.1:c.118A= NP_001165459.1:p.Thr40=
NR_033655.1:n.246A=
XM_006714123.2:c.118A= XP_006714186.1:p.Thr40=
XR_001741155.2:n.212A=
NM_000027.4:c.118A= MANE Select NP_000018.2:p.Thr40=
NM_001171988.2:c.118A= NP_001165459.1:p.Thr40=
NR_033655.2:n.180A=