Canonical Allele Identifier: CA1515642014
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437513T= , CM000666.2:g.177437513T= GRCh38
NC_000004.11:g.178358667T= , CM000666.1:g.178358667T= GRCh37
NC_000004.10:g.178595661T= NCBI36
NG_011845.2:g.9991A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.514A= MANE Select ENSP00000264595.2:p.Ile172=
ENST00000264595.6:c.514A= ENSP00000264595.2:p.Ile172=
ENST00000502310.5:c.169A= ENSP00000423798.1:p.Ile57=
ENST00000506853.5:n.548A=
ENST00000510635.1:c.210A=
ENST00000510955.5:n.435A=
NM_000027.3:c.514A= NP_000018.2:p.Ile172=
NM_001171988.1:c.514A= NP_001165459.1:p.Ile172=
NR_033655.1:n.642A=
XM_006714123.2:c.514A= XP_006714186.1:p.Ile172=
XR_001741155.2:n.608A=
NM_000027.4:c.514A= MANE Select NP_000018.2:p.Ile172=
NM_001171988.2:c.514A= NP_001165459.1:p.Ile172=
NR_033655.2:n.576A=