Canonical Allele Identifier: CA2186743716
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346641G= , CM000677.2:g.72346641G= GRCh38
NC_000015.9:g.72638982G= , CM000677.1:g.72638982G= GRCh37
NC_000015.8:g.70426036G= NCBI36
NG_009017.1:g.34539C=
NG_009017.2:g.34539C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-316C= ENSP00000457521.2:n.1074-316C=
ENST00000682061.1:c.*878C= ENSP00000508316.1:n.*878C=
ENST00000682064.1:n.558C=
ENST00000682177.1:c.1259C= ENSP00000507409.1:n.1259C=
ENST00000682235.1:n.555C=
ENST00000682461.1:c.1322C= ENSP00000507308.1:n.1322C=
ENST00000682653.1:n.1536C=
ENST00000682657.1:c.*484-316C= ENSP00000507753.1:n.*484-316C=
ENST00000682721.1:c.*1019C= ENSP00000507535.1:n.*1019C=
ENST00000682843.1:c.*972-316C= ENSP00000508173.1:n.*972-316C=
ENST00000683003.1:c.*484-316C= ENSP00000507576.1:n.*484-316C=
ENST00000683133.1:c.1400C= ENSP00000508108.1:n.1400C=
ENST00000683243.1:c.*484-316C= ENSP00000507042.1:n.*484-316C=
ENST00000683463.1:c.*21C= ENSP00000507986.1:n.*21C=
ENST00000683548.1:n.1105-316C=
ENST00000683579.1:c.*1114C= ENSP00000506867.1:n.*1114C=
ENST00000683587.1:n.1178-316C=
ENST00000683681.1:c.1216C= ENSP00000508110.1:p.Leu406=
ENST00000683735.1:c.*1045-316C= ENSP00000508336.1:n.*1045-316C=
ENST00000683853.1:c.*21C= ENSP00000506834.1:n.*21C=
ENST00000683860.1:c.1216C= ENSP00000507179.1:p.Leu406=
ENST00000683884.1:c.1147-316C= ENSP00000507004.1:n.1147-316C=
ENST00000684041.1:c.1216C= ENSP00000508382.1:p.Leu406=
ENST00000684125.1:c.1074-316C= ENSP00000507320.1:n.1074-316C=
ENST00000684203.1:n.2981C=
ENST00000684231.1:c.*626C= ENSP00000507748.1:n.*626C=
ENST00000684263.1:c.*156C= ENSP00000508369.1:n.*156C=
ENST00000684305.1:c.1664C= ENSP00000506819.1:n.1664C=
ENST00000684415.1:c.*83C= ENSP00000507227.1:n.*83C=
ENST00000684520.1:c.1216C= ENSP00000506826.1:p.Leu406=
ENST00000684602.1:c.*882C= ENSP00000507996.1:n.*882C=
ENST00000684667.1:c.1547C= ENSP00000507003.1:n.1547C=
ENST00000268097.10:c.1216C= MANE Select ENSP00000268097.6:p.Leu406=
ENST00000268097.9:c.1216C= ENSP00000268097.5:p.Leu406=
ENST00000379915.4:c.413-316C= ENSP00000478716.1:n.413-316C=
ENST00000563762.5:c.826-316C= ENSP00000456346.1:n.826-316C=
ENST00000566304.5:c.1249C= ENSP00000455114.1:p.Leu417=
ENST00000566672.5:c.*626C= ENSP00000457037.1:n.*626C=
ENST00000567027.5:c.946-316C=
ENST00000567159.5:c.1216C= ENSP00000456489.1:p.Leu406=
ENST00000567411.5:c.*737C= ENSP00000455545.1:n.*737C=
ENST00000568777.5:n.6551-316C=
ENST00000569410.5:c.*21C= ENSP00000457125.1:n.*21C=
NM_000520.4:c.1216C= NP_000511.2:p.Leu406=
NM_000520.5:c.1216C= NP_000511.2:p.Leu406=
NM_001318825.1:c.1249C= NP_001305754.1:p.Leu417=
NR_134869.1:n.1575-316C=
NM_000520.6:c.1216C= MANE Select NP_000511.2:p.Leu406=
NM_001318825.2:c.1249C= NP_001305754.1:p.Leu417=
NR_134869.2:n.1116-316C=
NR_134869.3:n.1116-316C=