Canonical Allele Identifier: CA393059355
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346311T>C , CM000677.2:g.72346311T>C GRCh38
NC_000015.9:g.72638652T>C , CM000677.1:g.72638652T>C GRCh37
NC_000015.8:g.70425706T>C NCBI36
NG_009017.1:g.34869A>G
NG_009017.2:g.34869A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*5A>G ENSP00000457521.2:n.*5A>G
ENST00000682061.1:c.*1007A>G ENSP00000508316.1:n.*1007A>G
ENST00000682064.1:n.888A>G
ENST00000682177.1:c.1388A>G ENSP00000507409.1:n.1388A>G
ENST00000682235.1:n.684A>G
ENST00000682461.1:c.1451A>G ENSP00000507308.1:n.1451A>G
ENST00000682653.1:n.1665A>G
ENST00000682657.1:c.*498A>G ENSP00000507753.1:n.*498A>G
ENST00000682721.1:c.*1148A>G ENSP00000507535.1:n.*1148A>G
ENST00000682843.1:c.*986A>G ENSP00000508173.1:n.*986A>G
ENST00000683003.1:c.*498A>G ENSP00000507576.1:n.*498A>G
ENST00000683133.1:c.1529A>G ENSP00000508108.1:n.1529A>G
ENST00000683243.1:c.*498A>G ENSP00000507042.1:n.*498A>G
ENST00000683463.1:c.*150A>G ENSP00000507986.1:n.*150A>G
ENST00000683548.1:n.1119A>G
ENST00000683579.1:c.*1243A>G ENSP00000506867.1:n.*1243A>G
ENST00000683587.1:n.1192A>G
ENST00000683681.1:c.1345A>G ENSP00000508110.1:p.Lys449Glu
ENST00000683735.1:c.*1059A>G ENSP00000508336.1:n.*1059A>G
ENST00000683853.1:c.*150A>G ENSP00000506834.1:n.*150A>G
ENST00000683860.1:c.1345A>G ENSP00000507179.1:p.Lys449Glu
ENST00000683884.1:c.1161A>G ENSP00000507004.1:p.Arg387=
ENST00000684041.1:c.1345A>G ENSP00000508382.1:p.Lys449Glu
ENST00000684125.1:c.*5A>G ENSP00000507320.1:n.*5A>G
ENST00000684203.1:n.3110A>G
ENST00000684231.1:c.*755A>G ENSP00000507748.1:n.*755A>G
ENST00000684263.1:c.*285A>G ENSP00000508369.1:n.*285A>G
ENST00000684305.1:c.1793A>G ENSP00000506819.1:n.1793A>G
ENST00000684415.1:c.*212A>G ENSP00000507227.1:n.*212A>G
ENST00000684520.1:c.1345A>G ENSP00000506826.1:p.Lys449Glu
ENST00000684602.1:c.*1011A>G ENSP00000507996.1:n.*1011A>G
ENST00000684667.1:c.1676A>G ENSP00000507003.1:n.1676A>G
ENST00000268097.10:c.1345A>G MANE Select ENSP00000268097.6:p.Lys449Glu
ENST00000268097.9:c.1345A>G ENSP00000268097.5:p.Lys449Glu
ENST00000379915.4:c.427A>G ENSP00000478716.1:p.Lys143Glu
ENST00000563762.5:c.840A>G ENSP00000456346.1:n.840A>G
ENST00000566304.5:c.1378A>G ENSP00000455114.1:p.Lys460Glu
ENST00000566672.5:c.*755A>G ENSP00000457037.1:n.*755A>G
ENST00000567027.5:c.960A>G
ENST00000567159.5:c.1345A>G ENSP00000456489.1:p.Lys449Glu
ENST00000567411.5:c.*866A>G ENSP00000455545.1:n.*866A>G
ENST00000568777.5:n.6565A>G
ENST00000569410.5:c.*150A>G ENSP00000457125.1:n.*150A>G
NM_000520.4:c.1345A>G NP_000511.2:p.Lys449Glu
NM_000520.5:c.1345A>G NP_000511.2:p.Lys449Glu
NM_001318825.1:c.1378A>G NP_001305754.1:p.Lys460Glu
NR_134869.1:n.1589A>G
NM_000520.6:c.1345A>G MANE Select NP_000511.2:p.Lys449Glu
NM_001318825.2:c.1378A>G NP_001305754.1:p.Lys460Glu
NR_134869.2:n.1130A>G
NR_134869.3:n.1130A>G