Canonical Allele Identifier: CA2186743557
Community Standard Title: NM_000520.6(HEXA):c.1385A= (p.Glu462=)
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346271T= , CM000677.2:g.72346271T= GRCh38
NC_000015.9:g.72638612T= , CM000677.1:g.72638612T= GRCh37
NC_000015.8:g.70425666T= NCBI36
NG_009017.1:g.34909A=
NG_009017.2:g.34909A=

Transcript Alleles

HGVS Amino-acid Change
NM_000520.6:c.1385A= MANE Select NP_000511.2:p.Glu462=
ENST00000268097.10:c.1385A= MANE Select ENSP00000268097.6:p.Glu462=
NM_000520.4:c.1385A= NP_000511.2:p.Glu462=
NM_000520.5:c.1385A= NP_000511.2:p.Glu462=
NM_001318825.1:c.1418A= NP_001305754.1:p.Glu473=
NM_001318825.2:c.1418A= NP_001305754.1:p.Glu473=
NR_134869.1:n.1629A=
NR_134869.2:n.1170A=
NR_134869.3:n.1170A=
ENST00000268097.9:c.1385A= ENSP00000268097.5:p.Glu462=
ENST00000379915.4:c.467A= ENSP00000478716.1:p.Glu156=
ENST00000563762.5:c.880A= ENSP00000456346.1:n.880A=
ENST00000566304.5:c.1418A= ENSP00000455114.1:p.Glu473=
ENST00000566672.5:c.*795A= ENSP00000457037.1:n.*795A=
ENST00000567027.5:c.1000A=
ENST00000567027.6:c.*45A= ENSP00000457521.2:n.*45A=
ENST00000567159.5:c.1385A= ENSP00000456489.1:p.Glu462=
ENST00000567411.5:c.*906A= ENSP00000455545.1:n.*906A=
ENST00000568777.5:n.6605A=
ENST00000569410.5:c.*190A= ENSP00000457125.1:n.*190A=
ENST00000682061.1:c.*1047A= ENSP00000508316.1:n.*1047A=
ENST00000682064.1:n.928A=
ENST00000682177.1:c.1428A= ENSP00000507409.1:n.1428A=
ENST00000682235.1:n.724A=
ENST00000682461.1:c.1491A= ENSP00000507308.1:n.1491A=
ENST00000682653.1:n.1705A=
ENST00000682657.1:c.*538A= ENSP00000507753.1:n.*538A=
ENST00000682721.1:c.*1188A= ENSP00000507535.1:n.*1188A=
ENST00000682843.1:c.*1026A= ENSP00000508173.1:n.*1026A=
ENST00000683003.1:c.*538A= ENSP00000507576.1:n.*538A=
ENST00000683133.1:c.1569A= ENSP00000508108.1:n.1569A=
ENST00000683243.1:c.*538A= ENSP00000507042.1:n.*538A=
ENST00000683463.1:c.*190A= ENSP00000507986.1:n.*190A=
ENST00000683548.1:n.1159A=
ENST00000683579.1:c.*1283A= ENSP00000506867.1:n.*1283A=
ENST00000683587.1:n.1232A=
ENST00000683681.1:c.1385A= ENSP00000508110.1:p.Glu462=
ENST00000683735.1:c.*1099A= ENSP00000508336.1:n.*1099A=
ENST00000683853.1:c.*190A= ENSP00000506834.1:n.*190A=
ENST00000683860.1:c.1385A= ENSP00000507179.1:p.Glu462=
ENST00000683884.1:c.*28A= ENSP00000507004.1:n.*28A=
ENST00000684041.1:c.1385A= ENSP00000508382.1:p.Glu462=
ENST00000684125.1:c.*45A= ENSP00000507320.1:n.*45A=
ENST00000684203.1:n.3150A=
ENST00000684231.1:c.*795A= ENSP00000507748.1:n.*795A=
ENST00000684263.1:c.*325A= ENSP00000508369.1:n.*325A=
ENST00000684305.1:c.1833A= ENSP00000506819.1:n.1833A=
ENST00000684415.1:c.*252A= ENSP00000507227.1:n.*252A=
ENST00000684520.1:c.1385A= ENSP00000506826.1:p.Glu462=
ENST00000684602.1:c.*1051A= ENSP00000507996.1:n.*1051A=
ENST00000684667.1:c.1716A= ENSP00000507003.1:n.1716A=