Canonical Allele Identifier: CA2186743301
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345551C= , CM000677.2:g.72345551C= GRCh38
NC_000015.9:g.72637892C= , CM000677.1:g.72637892C= GRCh37
NC_000015.8:g.70424946C= NCBI36
NG_009017.1:g.35629G=
NG_009017.2:g.35629G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*82-1G= ENSP00000457521.2:n.*82-1G=
ENST00000682061.1:c.*1767G= ENSP00000508316.1:n.*1767G=
ENST00000682064.1:n.1648G=
ENST00000682177.1:c.1465-1G= ENSP00000507409.1:n.1465-1G=
ENST00000682235.1:n.1444G=
ENST00000682461.1:c.1528-1G= ENSP00000507308.1:n.1528-1G=
ENST00000682653.1:n.2425G=
ENST00000682657.1:c.*1258G= ENSP00000507753.1:n.*1258G=
ENST00000682721.1:c.*1225-1G= ENSP00000507535.1:n.*1225-1G=
ENST00000682843.1:c.*1063-1G= ENSP00000508173.1:n.*1063-1G=
ENST00000683003.1:c.*1258G= ENSP00000507576.1:n.*1258G=
ENST00000683133.1:c.1606-1G= ENSP00000508108.1:n.1606-1G=
ENST00000683243.1:c.*575-1G= ENSP00000507042.1:n.*575-1G=
ENST00000683463.1:c.*910G= ENSP00000507986.1:n.*910G=
ENST00000683548.1:n.1879G=
ENST00000683579.1:c.*1320-1G= ENSP00000506867.1:n.*1320-1G=
ENST00000683587.1:n.1952G=
ENST00000683681.1:c.*100-1G= ENSP00000508110.1:n.*100-1G=
ENST00000683735.1:c.*1819G= ENSP00000508336.1:n.*1819G=
ENST00000683853.1:c.*227-1G= ENSP00000506834.1:n.*227-1G=
ENST00000683860.1:c.*541G= ENSP00000507179.1:n.*541G=
ENST00000683884.1:c.*748G= ENSP00000507004.1:n.*748G=
ENST00000684041.1:c.*555-1G= ENSP00000508382.1:n.*555-1G=
ENST00000684125.1:c.*82-1G= ENSP00000507320.1:n.*82-1G=
ENST00000684203.1:n.3870G=
ENST00000684231.1:c.*832-1G= ENSP00000507748.1:n.*832-1G=
ENST00000684263.1:c.*1045G= ENSP00000508369.1:n.*1045G=
ENST00000684305.1:c.1870-1G= ENSP00000506819.1:n.1870-1G=
ENST00000684415.1:c.*972G= ENSP00000507227.1:n.*972G=
ENST00000684520.1:c.*680G= ENSP00000506826.1:n.*680G=
ENST00000684602.1:c.*1088-1G= ENSP00000507996.1:n.*1088-1G=
ENST00000684667.1:c.1753-1G= ENSP00000507003.1:n.1753-1G=
ENST00000268097.10:c.1422-1G= MANE Select ENSP00000268097.6:n.1422-1G=
ENST00000268097.9:c.1422-1G= ENSP00000268097.5:n.1422-1G=
ENST00000379915.4:c.504-1G= ENSP00000478716.1:n.504-1G=
ENST00000564677.5:n.214-1G=
ENST00000565873.1:n.332G=
ENST00000566304.5:c.1455-1G= ENSP00000455114.1:n.1455-1G=
ENST00000567027.5:c.1037-1G=
ENST00000567159.5:c.1422-1G= ENSP00000456489.1:n.1422-1G=
ENST00000567411.5:c.*943-1G= ENSP00000455545.1:n.*943-1G=
ENST00000568777.5:n.6642-1G=
ENST00000569116.1:n.129-1G=
NM_000520.4:c.1422-1G= NP_000511.2:n.1422-1G=
NM_000520.5:c.1422-1G= NP_000511.2:n.1422-1G=
NM_001318825.1:c.1455-1G= NP_001305754.1:n.1455-1G=
NR_134869.1:n.1666-1G=
NM_000520.6:c.1422-1G= MANE Select NP_000511.2:n.1422-1G=
NM_001318825.2:c.1455-1G= NP_001305754.1:n.1455-1G=
NR_134869.2:n.1207-1G=
NR_134869.3:n.1207-1G=