Canonical Allele Identifier: CA1515645086
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439751A= , CM000666.2:g.177439751A= GRCh38
NC_000004.11:g.178360905A= , CM000666.1:g.178360905A= GRCh37
NC_000004.10:g.178597899A= NCBI36
NG_011845.2:g.7753T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.282-63T= MANE Select ENSP00000264595.2:n.282-63T=
ENST00000264595.6:c.282-63T= ENSP00000264595.2:n.282-63T=
ENST00000506853.5:n.316-63T=
ENST00000510955.5:n.315+522T=
NM_000027.3:c.282-63T= NP_000018.2:n.282-63T=
NM_001171988.1:c.282-63T= NP_001165459.1:n.282-63T=
NR_033655.1:n.410-63T=
XM_006714123.2:c.282-63T= XP_006714186.1:n.282-63T=
XR_001741155.2:n.376-63T=
NM_000027.4:c.282-63T= MANE Select NP_000018.2:n.282-63T=
NM_001171988.2:c.282-63T= NP_001165459.1:n.282-63T=
NR_033655.2:n.344-63T=