Canonical Allele Identifier: CA1515644717
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439605G= , CM000666.2:g.177439605G= GRCh38
NC_000004.11:g.178360759G= , CM000666.1:g.178360759G= GRCh37
NC_000004.10:g.178597753G= NCBI36
NG_011845.2:g.7899C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.365C= MANE Select ENSP00000264595.2:p.Thr122=
ENST00000264595.6:c.365C= ENSP00000264595.2:p.Thr122=
ENST00000502310.5:c.20C= ENSP00000423798.1:p.Thr7=
ENST00000506853.5:n.399C=
ENST00000510635.1:c.61C=
ENST00000510955.5:n.315+668C=
NM_000027.3:c.365C= NP_000018.2:p.Thr122=
NM_001171988.1:c.365C= NP_001165459.1:p.Thr122=
NR_033655.1:n.493C=
XM_006714123.2:c.365C= XP_006714186.1:p.Thr122=
XR_001741155.2:n.459C=
NM_000027.4:c.365C= MANE Select NP_000018.2:p.Thr122=
NM_001171988.2:c.365C= NP_001165459.1:p.Thr122=
NR_033655.2:n.427C=