Canonical Allele Identifier: CA2186747532
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72355589G= , CM000677.2:g.72355589G= GRCh38
NC_000015.9:g.72647930G= , CM000677.1:g.72647930G= GRCh37
NC_000015.8:g.70434984G= NCBI36
NG_009017.1:g.25591C=
NG_009017.2:g.25591C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000563908.2:n.395C=
ENST00000567027.6:c.382C= ENSP00000457521.2:p.Leu128=
ENST00000568260.2:c.449C= ENSP00000458128.2:n.449C=
ENST00000682061.1:c.*44C= ENSP00000508316.1:n.*44C=
ENST00000682177.1:c.382C= ENSP00000507409.1:p.Leu128=
ENST00000682461.1:c.646C= ENSP00000507308.1:n.646C=
ENST00000682653.1:n.413C=
ENST00000682657.1:c.254-4355C= ENSP00000507753.1:n.254-4355C=
ENST00000682721.1:c.*185C= ENSP00000507535.1:n.*185C=
ENST00000682843.1:c.*280C= ENSP00000508173.1:n.*280C=
ENST00000683003.1:c.382C= ENSP00000507576.1:p.Leu128=
ENST00000683133.1:c.566C= ENSP00000508108.1:n.566C=
ENST00000683228.1:n.413C=
ENST00000683243.1:c.382C= ENSP00000507042.1:p.Leu128=
ENST00000683463.1:c.382C= ENSP00000507986.1:p.Leu128=
ENST00000683548.1:n.413C=
ENST00000683579.1:c.*280C= ENSP00000506867.1:n.*280C=
ENST00000683587.1:n.413C=
ENST00000683681.1:c.382C= ENSP00000508110.1:p.Leu128=
ENST00000683735.1:c.*280C= ENSP00000508336.1:n.*280C=
ENST00000683853.1:c.382C= ENSP00000506834.1:p.Leu128=
ENST00000683860.1:c.382C= ENSP00000507179.1:p.Leu128=
ENST00000683884.1:c.382C= ENSP00000507004.1:p.Leu128=
ENST00000684041.1:c.382C= ENSP00000508382.1:p.Leu128=
ENST00000684125.1:c.382C= ENSP00000507320.1:p.Leu128=
ENST00000684203.1:n.399C=
ENST00000684231.1:c.382C= ENSP00000507748.1:p.Leu128=
ENST00000684263.1:c.382C= ENSP00000508369.1:p.Leu128=
ENST00000684305.1:c.830C= ENSP00000506819.1:n.830C=
ENST00000684415.1:c.382C= ENSP00000507227.1:p.Leu128=
ENST00000684520.1:c.382C= ENSP00000506826.1:p.Leu128=
ENST00000684602.1:c.*206C= ENSP00000507996.1:n.*206C=
ENST00000684667.1:c.713C= ENSP00000507003.1:n.713C=
ENST00000268097.10:c.382C= MANE Select ENSP00000268097.6:p.Leu128=
ENST00000268097.9:c.382C= ENSP00000268097.5:p.Leu128=
ENST00000379915.4:c.382C= ENSP00000478716.1:p.Leu128=
ENST00000563762.5:c.473C= ENSP00000456346.1:n.473C=
ENST00000563908.1:n.379C=
ENST00000566304.5:c.415C= ENSP00000455114.1:p.Leu139=
ENST00000566672.5:c.382C= ENSP00000457037.1:p.Leu128=
ENST00000567027.5:c.254C=
ENST00000567159.5:c.382C= ENSP00000456489.1:p.Leu128=
ENST00000567411.5:c.382C= ENSP00000455545.1:p.Leu128=
ENST00000568260.1:c.430C=
ENST00000568777.5:n.3965C=
ENST00000569410.5:c.382C= ENSP00000457125.1:p.Leu128=
ENST00000569509.5:n.387C=
NM_000520.4:c.382C= NP_000511.2:p.Leu128=
NM_000520.5:c.382C= NP_000511.2:p.Leu128=
NM_001318825.1:c.415C= NP_001305754.1:p.Leu139=
NR_134869.1:n.883C=
NM_000520.6:c.382C= MANE Select NP_000511.2:p.Leu128=
NM_001318825.2:c.415C= NP_001305754.1:p.Leu139=
NR_134869.2:n.424C=
NR_134869.3:n.424C=