Canonical Allele Identifier: CA1515637919
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434591C= , CM000666.2:g.177434591C= GRCh38
NC_000004.11:g.178355745C= , CM000666.1:g.178355745C= GRCh37
NC_000004.10:g.178592739C= NCBI36
NG_011845.2:g.12913G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.699-102G= MANE Select ENSP00000264595.2:n.699-102G=
ENST00000264595.6:c.699-102G= ENSP00000264595.2:n.699-102G=
ENST00000502310.5:c.278-110G= ENSP00000423798.1:n.278-110G=
ENST00000506853.5:n.657-102G=
ENST00000510635.1:c.373-110G=
NM_000027.3:c.699-102G= NP_000018.2:n.699-102G=
NM_001171988.1:c.677-110G= NP_001165459.1:n.677-110G=
NR_033655.1:n.751-102G=
XM_006714123.2:c.677-102G= XP_006714186.1:n.677-102G=
XR_001741155.2:n.771-102G=
NM_000027.4:c.699-102G= MANE Select NP_000018.2:n.699-102G=
NM_001171988.2:c.677-110G= NP_001165459.1:n.677-110G=
NR_033655.2:n.685-102G=