Canonical Allele Identifier: CA2186743295
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345537C= , CM000677.2:g.72345537C= GRCh38
NC_000015.9:g.72637878C= , CM000677.1:g.72637878C= GRCh37
NC_000015.8:g.70424932C= NCBI36
NG_009017.1:g.35643G=
NG_009017.2:g.35643G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*95G= ENSP00000457521.2:n.*95G=
ENST00000682061.1:c.*1781G= ENSP00000508316.1:n.*1781G=
ENST00000682064.1:n.1662G=
ENST00000682177.1:c.1478G= ENSP00000507409.1:n.1478G=
ENST00000682235.1:n.1458G=
ENST00000682461.1:c.1541G= ENSP00000507308.1:n.1541G=
ENST00000682653.1:n.2439G=
ENST00000682657.1:c.*1272G= ENSP00000507753.1:n.*1272G=
ENST00000682721.1:c.*1238G= ENSP00000507535.1:n.*1238G=
ENST00000682843.1:c.*1076G= ENSP00000508173.1:n.*1076G=
ENST00000683003.1:c.*1272G= ENSP00000507576.1:n.*1272G=
ENST00000683133.1:c.1619G= ENSP00000508108.1:n.1619G=
ENST00000683243.1:c.*588G= ENSP00000507042.1:n.*588G=
ENST00000683463.1:c.*924G= ENSP00000507986.1:n.*924G=
ENST00000683548.1:n.1893G=
ENST00000683579.1:c.*1333G= ENSP00000506867.1:n.*1333G=
ENST00000683587.1:n.1966G=
ENST00000683681.1:c.*113G= ENSP00000508110.1:n.*113G=
ENST00000683735.1:c.*1833G= ENSP00000508336.1:n.*1833G=
ENST00000683853.1:c.*240G= ENSP00000506834.1:n.*240G=
ENST00000683860.1:c.*555G= ENSP00000507179.1:n.*555G=
ENST00000683884.1:c.*762G= ENSP00000507004.1:n.*762G=
ENST00000684041.1:c.*568G= ENSP00000508382.1:n.*568G=
ENST00000684125.1:c.*95G= ENSP00000507320.1:n.*95G=
ENST00000684203.1:n.3884G=
ENST00000684231.1:c.*845G= ENSP00000507748.1:n.*845G=
ENST00000684263.1:c.*1059G= ENSP00000508369.1:n.*1059G=
ENST00000684305.1:c.1883G= ENSP00000506819.1:n.1883G=
ENST00000684415.1:c.*986G= ENSP00000507227.1:n.*986G=
ENST00000684520.1:c.*694G= ENSP00000506826.1:n.*694G=
ENST00000684602.1:c.*1101G= ENSP00000507996.1:n.*1101G=
ENST00000684667.1:c.1766G= ENSP00000507003.1:n.1766G=
ENST00000268097.10:c.1435G= MANE Select ENSP00000268097.6:p.Ala479=
ENST00000268097.9:c.1435G= ENSP00000268097.5:p.Ala479=
ENST00000379915.4:c.517G= ENSP00000478716.1:p.Ala173=
ENST00000564677.5:n.227G=
ENST00000565873.1:n.346G=
ENST00000566304.5:c.1468G= ENSP00000455114.1:p.Ala490=
ENST00000567027.5:c.1050G=
ENST00000567159.5:c.1435G= ENSP00000456489.1:p.Ala479=
ENST00000567411.5:c.*956G= ENSP00000455545.1:n.*956G=
ENST00000568777.5:n.6655G=
ENST00000569116.1:n.142G=
NM_000520.4:c.1435G= NP_000511.2:p.Ala479=
NM_000520.5:c.1435G= NP_000511.2:p.Ala479=
NM_001318825.1:c.1468G= NP_001305754.1:p.Ala490=
NR_134869.1:n.1679G=
NM_000520.6:c.1435G= MANE Select NP_000511.2:p.Ala479=
NM_001318825.2:c.1468G= NP_001305754.1:p.Ala490=
NR_134869.2:n.1220G=
NR_134869.3:n.1220G=