Canonical Allele Identifier: CA1515637932
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434611A= , CM000666.2:g.177434611A= GRCh38
NC_000004.11:g.178355765A= , CM000666.1:g.178355765A= GRCh37
NC_000004.10:g.178592759A= NCBI36
NG_011845.2:g.12893T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.699-122T= MANE Select ENSP00000264595.2:n.699-122T=
ENST00000264595.6:c.699-122T= ENSP00000264595.2:n.699-122T=
ENST00000502310.5:c.278-130T= ENSP00000423798.1:n.278-130T=
ENST00000506853.5:n.657-122T=
ENST00000510635.1:c.373-130T=
NM_000027.3:c.699-122T= NP_000018.2:n.699-122T=
NM_001171988.1:c.677-130T= NP_001165459.1:n.677-130T=
NR_033655.1:n.751-122T=
XM_006714123.2:c.677-122T= XP_006714186.1:n.677-122T=
XR_001741155.2:n.771-122T=
NM_000027.4:c.699-122T= MANE Select NP_000018.2:n.699-122T=
NM_001171988.2:c.677-130T= NP_001165459.1:n.677-130T=
NR_033655.2:n.685-122T=