Canonical Allele Identifier: CA1515645749
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440246T= , CM000666.2:g.177440246T= GRCh38
NC_000004.11:g.178361400T= , CM000666.1:g.178361400T= GRCh37
NC_000004.10:g.178598394T= NCBI36
NG_011845.2:g.7258A=

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.281+27A= MANE Select ENSP00000264595.2:n.281+27A=
ENST00000264595.6:c.281+27A= ENSP00000264595.2:n.281+27A=
ENST00000506853.5:n.315+27A=
ENST00000510955.5:n.315+27A=
ENST00000511231.1:n.342A=
NM_000027.3:c.281+27A= NP_000018.2:n.281+27A=
NM_001171988.1:c.281+27A= NP_001165459.1:n.281+27A=
NR_033655.1:n.409+27A=
XM_006714123.2:c.281+27A= XP_006714186.1:n.281+27A=
XR_001741155.2:n.375+27A=
NM_000027.4:c.281+27A= MANE Select NP_000018.2:n.281+27A=
NM_001171988.2:c.281+27A= NP_001165459.1:n.281+27A=
NR_033655.2:n.343+27A=