Canonical Allele Identifier: CA1515641590
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437258A= , CM000666.2:g.177437258A= GRCh38
NC_000004.11:g.178358412A= , CM000666.1:g.178358412A= GRCh37
NC_000004.10:g.178595406A= NCBI36
NG_011845.2:g.10246T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.622+147T= MANE Select ENSP00000264595.2:n.622+147T=
ENST00000264595.6:c.622+147T= ENSP00000264595.2:n.622+147T=
ENST00000502310.5:c.277+147T= ENSP00000423798.1:n.277+147T=
ENST00000506853.5:n.656+147T=
ENST00000510635.1:c.318+147T=
ENST00000510955.5:n.690T=
NM_000027.3:c.622+147T= NP_000018.2:n.622+147T=
NM_001171988.1:c.622+147T= NP_001165459.1:n.622+147T=
NR_033655.1:n.750+147T=
XM_006714123.2:c.622+147T= XP_006714186.1:n.622+147T=
XR_001741155.2:n.716+147T=
NM_000027.4:c.622+147T= MANE Select NP_000018.2:n.622+147T=
NM_001171988.2:c.622+147T= NP_001165459.1:n.622+147T=
NR_033655.2:n.684+147T=