Canonical Allele Identifier: CA1515641718
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437360A= , CM000666.2:g.177437360A= GRCh38
NC_000004.11:g.178358514A= , CM000666.1:g.178358514A= GRCh37
NC_000004.10:g.178595508A= NCBI36
NG_011845.2:g.10144T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.622+45T= MANE Select ENSP00000264595.2:n.622+45T=
ENST00000264595.6:c.622+45T= ENSP00000264595.2:n.622+45T=
ENST00000502310.5:c.277+45T= ENSP00000423798.1:n.277+45T=
ENST00000506853.5:n.656+45T=
ENST00000510635.1:c.318+45T=
ENST00000510955.5:n.588T=
NM_000027.3:c.622+45T= NP_000018.2:n.622+45T=
NM_001171988.1:c.622+45T= NP_001165459.1:n.622+45T=
NR_033655.1:n.750+45T=
XM_006714123.2:c.622+45T= XP_006714186.1:n.622+45T=
XR_001741155.2:n.716+45T=
NM_000027.4:c.622+45T= MANE Select NP_000018.2:n.622+45T=
NM_001171988.2:c.622+45T= NP_001165459.1:n.622+45T=
NR_033655.2:n.684+45T=