Canonical Allele Identifier: CA2186743255
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345454T= , CM000677.2:g.72345454T= GRCh38
NC_000015.9:g.72637795T= , CM000677.1:g.72637795T= GRCh37
NC_000015.8:g.70424849T= NCBI36
NG_009017.1:g.35726A=
NG_009017.2:g.35726A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*178A= ENSP00000457521.2:n.*178A=
ENST00000682061.1:c.*1864A= ENSP00000508316.1:n.*1864A=
ENST00000682064.1:n.1745A=
ENST00000682177.1:c.1561A= ENSP00000507409.1:n.1561A=
ENST00000682235.1:n.1541A=
ENST00000682461.1:c.1624A= ENSP00000507308.1:n.1624A=
ENST00000682653.1:n.2522A=
ENST00000682657.1:c.*1355A= ENSP00000507753.1:n.*1355A=
ENST00000682721.1:c.*1321A= ENSP00000507535.1:n.*1321A=
ENST00000682843.1:c.*1159A= ENSP00000508173.1:n.*1159A=
ENST00000683003.1:c.*1355A= ENSP00000507576.1:n.*1355A=
ENST00000683133.1:c.1702A= ENSP00000508108.1:n.1702A=
ENST00000683243.1:c.*671A= ENSP00000507042.1:n.*671A=
ENST00000683463.1:c.*1007A= ENSP00000507986.1:n.*1007A=
ENST00000683548.1:n.1976A=
ENST00000683579.1:c.*1416A= ENSP00000506867.1:n.*1416A=
ENST00000683587.1:n.2049A=
ENST00000683681.1:c.*196A= ENSP00000508110.1:n.*196A=
ENST00000683735.1:c.*1916A= ENSP00000508336.1:n.*1916A=
ENST00000683853.1:c.*323A= ENSP00000506834.1:n.*323A=
ENST00000683860.1:c.*638A= ENSP00000507179.1:n.*638A=
ENST00000683884.1:c.*845A= ENSP00000507004.1:n.*845A=
ENST00000684125.1:c.*178A= ENSP00000507320.1:n.*178A=
ENST00000684203.1:n.3967A=
ENST00000684231.1:c.*928A= ENSP00000507748.1:n.*928A=
ENST00000684263.1:c.*1142A= ENSP00000508369.1:n.*1142A=
ENST00000684305.1:c.1966A= ENSP00000506819.1:n.1966A=
ENST00000684415.1:c.*1069A= ENSP00000507227.1:n.*1069A=
ENST00000684520.1:c.*777A= ENSP00000506826.1:n.*777A=
ENST00000684602.1:c.*1184A= ENSP00000507996.1:n.*1184A=
ENST00000684667.1:c.1849A= ENSP00000507003.1:n.1849A=
ENST00000268097.10:c.1518A= MANE Select ENSP00000268097.6:p.Glu506=
ENST00000268097.9:c.1518A= ENSP00000268097.5:p.Glu506=
ENST00000379915.4:c.600A= ENSP00000478716.1:p.Glu200=
ENST00000564677.5:n.310A=
ENST00000565873.1:n.429A=
ENST00000566304.5:c.1551A= ENSP00000455114.1:p.Glu517=
ENST00000567027.5:c.1133A=
ENST00000567159.5:c.1518A= ENSP00000456489.1:p.Glu506=
ENST00000567411.5:c.*1039A= ENSP00000455545.1:n.*1039A=
ENST00000568777.5:n.6738A=
ENST00000569116.1:n.225A=
NM_000520.4:c.1518A= NP_000511.2:p.Glu506=
NM_000520.5:c.1518A= NP_000511.2:p.Glu506=
NM_001318825.1:c.1551A= NP_001305754.1:p.Glu517=
NR_134869.1:n.1762A=
NM_000520.6:c.1518A= MANE Select NP_000511.2:p.Glu506=
NM_001318825.2:c.1551A= NP_001305754.1:p.Glu517=
NR_134869.2:n.1303A=
NR_134869.3:n.1303A=