Canonical Allele Identifier: CA1515637799
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434500G= , CM000666.2:g.177434500G= GRCh38
NC_000004.11:g.178355654G= , CM000666.1:g.178355654G= GRCh37
NC_000004.10:g.178592648G= NCBI36
NG_011845.2:g.13004C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.699-11C= MANE Select ENSP00000264595.2:n.699-11C=
ENST00000264595.6:c.699-11C= ENSP00000264595.2:n.699-11C=
ENST00000502310.5:c.278-19C= ENSP00000423798.1:n.278-19C=
ENST00000506853.5:n.657-11C=
ENST00000510635.1:c.373-19C=
NM_000027.3:c.699-11C= NP_000018.2:n.699-11C=
NM_001171988.1:c.677-19C= NP_001165459.1:n.677-19C=
NR_033655.1:n.751-11C=
XM_006714123.2:c.677-11C= XP_006714186.1:n.677-11C=
XR_001741155.2:n.771-11C=
NM_000027.4:c.699-11C= MANE Select NP_000018.2:n.699-11C=
NM_001171988.2:c.677-19C= NP_001165459.1:n.677-19C=
NR_033655.2:n.685-11C=