Canonical Allele Identifier: CA2186745453
Community Standard Title: NM_000520.6(HEXA):c.739C= (p.Arg247=)
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72350584G= , CM000677.2:g.72350584G= GRCh38
NC_000015.9:g.72642925G= , CM000677.1:g.72642925G= GRCh37
NC_000015.8:g.70429979G= NCBI36
NG_009017.1:g.30596C=
NG_009017.2:g.30596C=

Transcript Alleles

HGVS Amino-acid Change
NM_000520.6:c.739C= MANE Select NP_000511.2:p.Arg247=
ENST00000268097.10:c.739C= MANE Select ENSP00000268097.6:p.Arg247=
NM_000520.4:c.739C= NP_000511.2:p.Arg247=
NM_000520.5:c.739C= NP_000511.2:p.Arg247=
NM_001318825.1:c.772C= NP_001305754.1:p.Arg258=
NM_001318825.2:c.772C= NP_001305754.1:p.Arg258=
NR_134869.1:n.1240C=
NR_134869.2:n.781C=
NR_134869.3:n.781C=
ENST00000268097.9:c.739C= ENSP00000268097.5:p.Arg247=
ENST00000379915.4:c.413-4259C= ENSP00000478716.1:n.413-4259C=
ENST00000563762.5:c.672C= ENSP00000456346.1:n.672C=
ENST00000563908.2:n.3085C=
ENST00000566304.5:c.772C= ENSP00000455114.1:p.Arg258=
ENST00000566672.5:c.*149C= ENSP00000457037.1:n.*149C=
ENST00000567027.5:c.611C=
ENST00000567027.6:c.739C= ENSP00000457521.2:p.Arg247=
ENST00000567159.5:c.739C= ENSP00000456489.1:p.Arg247=
ENST00000567411.5:c.*260C= ENSP00000455545.1:n.*260C=
ENST00000568777.5:n.6143C=
ENST00000569410.5:c.739C= ENSP00000457125.1:p.Arg247=
ENST00000569509.5:n.586C=
ENST00000682061.1:c.*401C= ENSP00000508316.1:n.*401C=
ENST00000682177.1:c.782C= ENSP00000507409.1:n.782C=
ENST00000682461.1:c.845C= ENSP00000507308.1:n.845C=
ENST00000682653.1:n.770C=
ENST00000682657.1:c.*149C= ENSP00000507753.1:n.*149C=
ENST00000682721.1:c.*542C= ENSP00000507535.1:n.*542C=
ENST00000682843.1:c.*637C= ENSP00000508173.1:n.*637C=
ENST00000683003.1:c.*149C= ENSP00000507576.1:n.*149C=
ENST00000683133.1:c.923C= ENSP00000508108.1:n.923C=
ENST00000683228.1:n.770C=
ENST00000683243.1:c.*149C= ENSP00000507042.1:n.*149C=
ENST00000683463.1:c.739C= ENSP00000507986.1:p.Arg247=
ENST00000683548.1:n.770C=
ENST00000683579.1:c.*637C= ENSP00000506867.1:n.*637C=
ENST00000683587.1:n.770C=
ENST00000683681.1:c.739C= ENSP00000508110.1:p.Arg247=
ENST00000683735.1:c.*637C= ENSP00000508336.1:n.*637C=
ENST00000683742.1:n.570C=
ENST00000683853.1:c.739C= ENSP00000506834.1:p.Arg247=
ENST00000683860.1:c.739C= ENSP00000507179.1:p.Arg247=
ENST00000683884.1:c.739C= ENSP00000507004.1:p.Arg247=
ENST00000684041.1:c.739C= ENSP00000508382.1:p.Arg247=
ENST00000684125.1:c.739C= ENSP00000507320.1:p.Arg247=
ENST00000684203.1:n.2577C=
ENST00000684231.1:c.*149C= ENSP00000507748.1:n.*149C=
ENST00000684263.1:c.739C= ENSP00000508369.1:p.Arg247=
ENST00000684305.1:c.1187C= ENSP00000506819.1:n.1187C=
ENST00000684415.1:c.739C= ENSP00000507227.1:p.Arg247=
ENST00000684520.1:c.739C= ENSP00000506826.1:p.Arg247=
ENST00000684602.1:c.*405C= ENSP00000507996.1:n.*405C=
ENST00000684667.1:c.1070C= ENSP00000507003.1:n.1070C=