Canonical Allele Identifier: CA1515637950
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434623A= , CM000666.2:g.177434623A= GRCh38
NC_000004.11:g.178355777A= , CM000666.1:g.178355777A= GRCh37
NC_000004.10:g.178592771A= NCBI36
NG_011845.2:g.12881T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.699-134T= MANE Select ENSP00000264595.2:n.699-134T=
ENST00000264595.6:c.699-134T= ENSP00000264595.2:n.699-134T=
ENST00000502310.5:c.278-142T= ENSP00000423798.1:n.278-142T=
ENST00000506853.5:n.657-134T=
ENST00000510635.1:c.373-142T=
NM_000027.3:c.699-134T= NP_000018.2:n.699-134T=
NM_001171988.1:c.677-142T= NP_001165459.1:n.677-142T=
NR_033655.1:n.751-134T=
XM_006714123.2:c.677-134T= XP_006714186.1:n.677-134T=
XR_001741155.2:n.771-134T=
NM_000027.4:c.699-134T= MANE Select NP_000018.2:n.699-134T=
NM_001171988.2:c.677-142T= NP_001165459.1:n.677-142T=
NR_033655.2:n.685-134T=