Canonical Allele Identifier: CA1515642180
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437653C= , CM000666.2:g.177437653C= GRCh38
NC_000004.11:g.178358807C= , CM000666.1:g.178358807C= GRCh37
NC_000004.10:g.178595801C= NCBI36
NG_011845.2:g.9851G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-134G= MANE Select ENSP00000264595.2:n.508-134G=
ENST00000264595.6:c.508-134G= ENSP00000264595.2:n.508-134G=
ENST00000502310.5:c.163-134G= ENSP00000423798.1:n.163-134G=
ENST00000506853.5:n.542-134G=
ENST00000510635.1:c.204-134G=
ENST00000510955.5:n.429-134G=
NM_000027.3:c.508-134G= NP_000018.2:n.508-134G=
NM_001171988.1:c.508-134G= NP_001165459.1:n.508-134G=
NR_033655.1:n.636-134G=
XM_006714123.2:c.508-134G= XP_006714186.1:n.508-134G=
XR_001741155.2:n.602-134G=
NM_000027.4:c.508-134G= MANE Select NP_000018.2:n.508-134G=
NM_001171988.2:c.508-134G= NP_001165459.1:n.508-134G=
NR_033655.2:n.570-134G=