Canonical Allele Identifier: CA2186743056
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345048T= , CM000677.2:g.72345048T= GRCh38
NC_000015.9:g.72637389T= , CM000677.1:g.72637389T= GRCh37
NC_000015.8:g.70424443T= NCBI36
NG_009017.1:g.36132A=
NG_009017.2:g.36132A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682064.1:n.1753+398A=
ENST00000682235.1:n.1549+398A=
ENST00000682461.1:c.1632+398A= ENSP00000507308.1:n.1632+398A=
ENST00000682653.1:n.2928A=
ENST00000682721.1:c.*1329+398A= ENSP00000507535.1:n.*1329+398A=
ENST00000682843.1:c.*1167+398A= ENSP00000508173.1:n.*1167+398A=
ENST00000683133.1:c.1710+398A= ENSP00000508108.1:n.1710+398A=
ENST00000683243.1:c.*679+398A= ENSP00000507042.1:n.*679+398A=
ENST00000683463.1:c.*1015+398A= ENSP00000507986.1:n.*1015+398A=
ENST00000683548.1:n.1984+398A=
ENST00000683579.1:c.*1424+398A= ENSP00000506867.1:n.*1424+398A=
ENST00000683587.1:n.2057+398A=
ENST00000683681.1:c.*204+398A= ENSP00000508110.1:n.*204+398A=
ENST00000683735.1:c.*1924+398A= ENSP00000508336.1:n.*1924+398A=
ENST00000683853.1:c.*729A= ENSP00000506834.1:n.*729A=
ENST00000683860.1:c.*646+398A= ENSP00000507179.1:n.*646+398A=
ENST00000684125.1:c.*186+398A= ENSP00000507320.1:n.*186+398A=
ENST00000684203.1:n.3975+398A=
ENST00000684231.1:c.*936+398A= ENSP00000507748.1:n.*936+398A=
ENST00000684263.1:c.*1150+398A= ENSP00000508369.1:n.*1150+398A=
ENST00000684305.1:c.1974+398A= ENSP00000506819.1:n.1974+398A=
ENST00000684602.1:c.*1192+398A= ENSP00000507996.1:n.*1192+398A=
ENST00000684667.1:c.1857+398A= ENSP00000507003.1:n.1857+398A=
ENST00000268097.10:c.1526+398A= MANE Select ENSP00000268097.6:n.1526+398A=
ENST00000268097.9:c.1526+398A= ENSP00000268097.5:n.1526+398A=
ENST00000379915.4:c.608+398A= ENSP00000478716.1:n.608+398A=
ENST00000564677.5:n.318+398A=
ENST00000565873.1:n.437+398A=
ENST00000566304.5:c.1559+398A= ENSP00000455114.1:n.1559+398A=
ENST00000567411.5:c.*1047+398A= ENSP00000455545.1:n.*1047+398A=
NM_000520.4:c.1526+398A= NP_000511.2:n.1526+398A=
NM_000520.5:c.1526+398A= NP_000511.2:n.1526+398A=
NM_001318825.1:c.1559+398A= NP_001305754.1:n.1559+398A=
NM_000520.6:c.1526+398A= MANE Select NP_000511.2:n.1526+398A=
NM_001318825.2:c.1559+398A= NP_001305754.1:n.1559+398A=