Canonical Allele Identifier: CA1515643958
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439063A= , CM000666.2:g.177439063A= GRCh38
NC_000004.11:g.178360217A= , CM000666.1:g.178360217A= GRCh37
NC_000004.10:g.178597211A= NCBI36
NG_011845.2:g.8441T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.395-206T= MANE Select ENSP00000264595.2:n.395-206T=
ENST00000264595.6:c.395-206T= ENSP00000264595.2:n.395-206T=
ENST00000502310.5:c.50-206T= ENSP00000423798.1:n.50-206T=
ENST00000506853.5:n.429-206T=
ENST00000510635.1:c.91-206T=
ENST00000510955.5:n.316-206T=
NM_000027.3:c.395-206T= NP_000018.2:n.395-206T=
NM_001171988.1:c.395-206T= NP_001165459.1:n.395-206T=
NR_033655.1:n.523-206T=
XM_006714123.2:c.395-206T= XP_006714186.1:n.395-206T=
XR_001741155.2:n.489-206T=
NM_000027.4:c.395-206T= MANE Select NP_000018.2:n.395-206T=
NM_001171988.2:c.395-206T= NP_001165459.1:n.395-206T=
NR_033655.2:n.457-206T=