Canonical Allele Identifier: CA1515637936
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434613C= , CM000666.2:g.177434613C= GRCh38
NC_000004.11:g.178355767C= , CM000666.1:g.178355767C= GRCh37
NC_000004.10:g.178592761C= NCBI36
NG_011845.2:g.12891G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.699-124G= MANE Select ENSP00000264595.2:n.699-124G=
ENST00000264595.6:c.699-124G= ENSP00000264595.2:n.699-124G=
ENST00000502310.5:c.278-132G= ENSP00000423798.1:n.278-132G=
ENST00000506853.5:n.657-124G=
ENST00000510635.1:c.373-132G=
NM_000027.3:c.699-124G= NP_000018.2:n.699-124G=
NM_001171988.1:c.677-132G= NP_001165459.1:n.677-132G=
NR_033655.1:n.751-124G=
XM_006714123.2:c.677-124G= XP_006714186.1:n.677-124G=
XR_001741155.2:n.771-124G=
NM_000027.4:c.699-124G= MANE Select NP_000018.2:n.699-124G=
NM_001171988.2:c.677-132G= NP_001165459.1:n.677-132G=
NR_033655.2:n.685-124G=