Canonical Allele Identifier: CA1515649444
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442336A= , CM000666.2:g.177442336A= GRCh38
NC_000004.11:g.178363490A= , CM000666.1:g.178363490A= GRCh37
NC_000004.10:g.178600484A= NCBI36
NG_011845.2:g.5168T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.40T= MANE Select ENSP00000264595.2:p.Phe14=
ENST00000264595.6:c.40T= ENSP00000264595.2:p.Phe14=
ENST00000506853.5:n.74T=
ENST00000510955.5:n.74T=
ENST00000511231.1:n.74T=
NM_000027.3:c.40T= NP_000018.2:p.Phe14=
NM_001171988.1:c.40T= NP_001165459.1:p.Phe14=
NR_033655.1:n.168T=
XM_006714123.2:c.40T= XP_006714186.1:p.Phe14=
XR_001741155.2:n.134T=
NM_000027.4:c.40T= MANE Select NP_000018.2:p.Phe14=
NM_001171988.2:c.40T= NP_001165459.1:p.Phe14=
NR_033655.2:n.102T=