Canonical Allele Identifier: CA2186743277
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345503G= , CM000677.2:g.72345503G= GRCh38
NC_000015.9:g.72637844G= , CM000677.1:g.72637844G= GRCh37
NC_000015.8:g.70424898G= NCBI36
NG_009017.1:g.35677C=
NG_009017.2:g.35677C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*129C= ENSP00000457521.2:n.*129C=
ENST00000682061.1:c.*1815C= ENSP00000508316.1:n.*1815C=
ENST00000682064.1:n.1696C=
ENST00000682177.1:c.1512C= ENSP00000507409.1:n.1512C=
ENST00000682235.1:n.1492C=
ENST00000682461.1:c.1575C= ENSP00000507308.1:n.1575C=
ENST00000682653.1:n.2473C=
ENST00000682657.1:c.*1306C= ENSP00000507753.1:n.*1306C=
ENST00000682721.1:c.*1272C= ENSP00000507535.1:n.*1272C=
ENST00000682843.1:c.*1110C= ENSP00000508173.1:n.*1110C=
ENST00000683003.1:c.*1306C= ENSP00000507576.1:n.*1306C=
ENST00000683133.1:c.1653C= ENSP00000508108.1:n.1653C=
ENST00000683243.1:c.*622C= ENSP00000507042.1:n.*622C=
ENST00000683463.1:c.*958C= ENSP00000507986.1:n.*958C=
ENST00000683548.1:n.1927C=
ENST00000683579.1:c.*1367C= ENSP00000506867.1:n.*1367C=
ENST00000683587.1:n.2000C=
ENST00000683681.1:c.*147C= ENSP00000508110.1:n.*147C=
ENST00000683735.1:c.*1867C= ENSP00000508336.1:n.*1867C=
ENST00000683853.1:c.*274C= ENSP00000506834.1:n.*274C=
ENST00000683860.1:c.*589C= ENSP00000507179.1:n.*589C=
ENST00000683884.1:c.*796C= ENSP00000507004.1:n.*796C=
ENST00000684041.1:c.*602C= ENSP00000508382.1:n.*602C=
ENST00000684125.1:c.*129C= ENSP00000507320.1:n.*129C=
ENST00000684203.1:n.3918C=
ENST00000684231.1:c.*879C= ENSP00000507748.1:n.*879C=
ENST00000684263.1:c.*1093C= ENSP00000508369.1:n.*1093C=
ENST00000684305.1:c.1917C= ENSP00000506819.1:n.1917C=
ENST00000684415.1:c.*1020C= ENSP00000507227.1:n.*1020C=
ENST00000684520.1:c.*728C= ENSP00000506826.1:n.*728C=
ENST00000684602.1:c.*1135C= ENSP00000507996.1:n.*1135C=
ENST00000684667.1:c.1800C= ENSP00000507003.1:n.1800C=
ENST00000268097.10:c.1469C= MANE Select ENSP00000268097.6:p.Thr490=
ENST00000268097.9:c.1469C= ENSP00000268097.5:p.Thr490=
ENST00000379915.4:c.551C= ENSP00000478716.1:p.Thr184=
ENST00000564677.5:n.261C=
ENST00000565873.1:n.380C=
ENST00000566304.5:c.1502C= ENSP00000455114.1:p.Thr501=
ENST00000567027.5:c.1084C=
ENST00000567159.5:c.1469C= ENSP00000456489.1:p.Thr490=
ENST00000567411.5:c.*990C= ENSP00000455545.1:n.*990C=
ENST00000568777.5:n.6689C=
ENST00000569116.1:n.176C=
NM_000520.4:c.1469C= NP_000511.2:p.Thr490=
NM_000520.5:c.1469C= NP_000511.2:p.Thr490=
NM_001318825.1:c.1502C= NP_001305754.1:p.Thr501=
NR_134869.1:n.1713C=
NM_000520.6:c.1469C= MANE Select NP_000511.2:p.Thr490=
NM_001318825.2:c.1502C= NP_001305754.1:p.Thr501=
NR_134869.2:n.1254C=
NR_134869.3:n.1254C=