Canonical Allele Identifier: CA1515649590
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442358G= , CM000666.2:g.177442358G= GRCh38
NC_000004.11:g.178363512G= , CM000666.1:g.178363512G= GRCh37
NC_000004.10:g.178600506G= NCBI36
NG_011845.2:g.5146C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.18C= MANE Select ENSP00000264595.2:p.Asn6=
ENST00000264595.6:c.18C= ENSP00000264595.2:p.Asn6=
ENST00000506853.5:n.52C=
ENST00000510955.5:n.52C=
ENST00000511231.1:n.52C=
NM_000027.3:c.18C= NP_000018.2:p.Asn6=
NM_001171988.1:c.18C= NP_001165459.1:p.Asn6=
NR_033655.1:n.146C=
XM_006714123.2:c.18C= XP_006714186.1:p.Asn6=
XR_001741155.2:n.112C=
NM_000027.4:c.18C= MANE Select NP_000018.2:p.Asn6=
NM_001171988.2:c.18C= NP_001165459.1:p.Asn6=
NR_033655.2:n.80C=