Canonical Allele Identifier: CA1515645753
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440250T= , CM000666.2:g.177440250T= GRCh38
NC_000004.11:g.178361404T= , CM000666.1:g.178361404T= GRCh37
NC_000004.10:g.178598398T= NCBI36
NG_011845.2:g.7254A=

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.281+23A= MANE Select ENSP00000264595.2:n.281+23A=
ENST00000264595.6:c.281+23A= ENSP00000264595.2:n.281+23A=
ENST00000506853.5:n.315+23A=
ENST00000510955.5:n.315+23A=
ENST00000511231.1:n.338A=
NM_000027.3:c.281+23A= NP_000018.2:n.281+23A=
NM_001171988.1:c.281+23A= NP_001165459.1:n.281+23A=
NR_033655.1:n.409+23A=
XM_006714123.2:c.281+23A= XP_006714186.1:n.281+23A=
XR_001741155.2:n.375+23A=
NM_000027.4:c.281+23A= MANE Select NP_000018.2:n.281+23A=
NM_001171988.2:c.281+23A= NP_001165459.1:n.281+23A=
NR_033655.2:n.343+23A=