Canonical Allele Identifier: CA1515641646
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437312T= , CM000666.2:g.177437312T= GRCh38
NC_000004.11:g.178358466T= , CM000666.1:g.178358466T= GRCh37
NC_000004.10:g.178595460T= NCBI36
NG_011845.2:g.10192A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.622+93A= MANE Select ENSP00000264595.2:n.622+93A=
ENST00000264595.6:c.622+93A= ENSP00000264595.2:n.622+93A=
ENST00000502310.5:c.277+93A= ENSP00000423798.1:n.277+93A=
ENST00000506853.5:n.656+93A=
ENST00000510635.1:c.318+93A=
ENST00000510955.5:n.636A=
NM_000027.3:c.622+93A= NP_000018.2:n.622+93A=
NM_001171988.1:c.622+93A= NP_001165459.1:n.622+93A=
NR_033655.1:n.750+93A=
XM_006714123.2:c.622+93A= XP_006714186.1:n.622+93A=
XR_001741155.2:n.716+93A=
NM_000027.4:c.622+93A= MANE Select NP_000018.2:n.622+93A=
NM_001171988.2:c.622+93A= NP_001165459.1:n.622+93A=
NR_033655.2:n.684+93A=