Canonical Allele Identifier: CA1515641782
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437406A= , CM000666.2:g.177437406A= GRCh38
NC_000004.11:g.178358560A= , CM000666.1:g.178358560A= GRCh37
NC_000004.10:g.178595554A= NCBI36
NG_011845.2:g.10098T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.621T= MANE Select ENSP00000264595.2:p.Ile207=
ENST00000264595.6:c.621T= ENSP00000264595.2:p.Ile207=
ENST00000502310.5:c.276T= ENSP00000423798.1:p.Ile92=
ENST00000506853.5:n.655T=
ENST00000510635.1:c.317T=
ENST00000510955.5:n.542T=
NM_000027.3:c.621T= NP_000018.2:p.Ile207=
NM_001171988.1:c.621T= NP_001165459.1:p.Ile207=
NR_033655.1:n.749T=
XM_006714123.2:c.621T= XP_006714186.1:p.Ile207=
XR_001741155.2:n.715T=
NM_000027.4:c.621T= MANE Select NP_000018.2:p.Ile207=
NM_001171988.2:c.621T= NP_001165459.1:p.Ile207=
NR_033655.2:n.683T=