Canonical Allele Identifier: CA393058663
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345488A>C , CM000677.2:g.72345488A>C GRCh38
NC_000015.9:g.72637829A>C , CM000677.1:g.72637829A>C GRCh37
NC_000015.8:g.70424883A>C NCBI36
NG_009017.1:g.35692T>G
NG_009017.2:g.35692T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.*144T>G ENSP00000457521.2:n.*144T>G
ENST00000682061.1:c.*1830T>G ENSP00000508316.1:n.*1830T>G
ENST00000682064.1:n.1711T>G
ENST00000682177.1:c.1527T>G ENSP00000507409.1:n.1527T>G
ENST00000682235.1:n.1507T>G
ENST00000682461.1:c.1590T>G ENSP00000507308.1:n.1590T>G
ENST00000682653.1:n.2488T>G
ENST00000682657.1:c.*1321T>G ENSP00000507753.1:n.*1321T>G
ENST00000682721.1:c.*1287T>G ENSP00000507535.1:n.*1287T>G
ENST00000682843.1:c.*1125T>G ENSP00000508173.1:n.*1125T>G
ENST00000683003.1:c.*1321T>G ENSP00000507576.1:n.*1321T>G
ENST00000683133.1:c.1668T>G ENSP00000508108.1:n.1668T>G
ENST00000683243.1:c.*637T>G ENSP00000507042.1:n.*637T>G
ENST00000683463.1:c.*973T>G ENSP00000507986.1:n.*973T>G
ENST00000683548.1:n.1942T>G
ENST00000683579.1:c.*1382T>G ENSP00000506867.1:n.*1382T>G
ENST00000683587.1:n.2015T>G
ENST00000683681.1:c.*162T>G ENSP00000508110.1:n.*162T>G
ENST00000683735.1:c.*1882T>G ENSP00000508336.1:n.*1882T>G
ENST00000683853.1:c.*289T>G ENSP00000506834.1:n.*289T>G
ENST00000683860.1:c.*604T>G ENSP00000507179.1:n.*604T>G
ENST00000683884.1:c.*811T>G ENSP00000507004.1:n.*811T>G
ENST00000684041.1:c.*617T>G ENSP00000508382.1:n.*617T>G
ENST00000684125.1:c.*144T>G ENSP00000507320.1:n.*144T>G
ENST00000684203.1:n.3933T>G
ENST00000684231.1:c.*894T>G ENSP00000507748.1:n.*894T>G
ENST00000684263.1:c.*1108T>G ENSP00000508369.1:n.*1108T>G
ENST00000684305.1:c.1932T>G ENSP00000506819.1:n.1932T>G
ENST00000684415.1:c.*1035T>G ENSP00000507227.1:n.*1035T>G
ENST00000684520.1:c.*743T>G ENSP00000506826.1:n.*743T>G
ENST00000684602.1:c.*1150T>G ENSP00000507996.1:n.*1150T>G
ENST00000684667.1:c.1815T>G ENSP00000507003.1:n.1815T>G
ENST00000268097.10:c.1484T>G MANE Select ENSP00000268097.6:p.Phe495Cys
ENST00000268097.9:c.1484T>G ENSP00000268097.5:p.Phe495Cys
ENST00000379915.4:c.566T>G ENSP00000478716.1:p.Phe189Cys
ENST00000564677.5:n.276T>G
ENST00000565873.1:n.395T>G
ENST00000566304.5:c.1517T>G ENSP00000455114.1:p.Phe506Cys
ENST00000567027.5:c.1099T>G
ENST00000567159.5:c.1484T>G ENSP00000456489.1:p.Phe495Cys
ENST00000567411.5:c.*1005T>G ENSP00000455545.1:n.*1005T>G
ENST00000568777.5:n.6704T>G
ENST00000569116.1:n.191T>G
NM_000520.4:c.1484T>G NP_000511.2:p.Phe495Cys
NM_000520.5:c.1484T>G NP_000511.2:p.Phe495Cys
NM_001318825.1:c.1517T>G NP_001305754.1:p.Phe506Cys
NR_134869.1:n.1728T>G
NM_000520.6:c.1484T>G MANE Select NP_000511.2:p.Phe495Cys
NM_001318825.2:c.1517T>G NP_001305754.1:p.Phe506Cys
NR_134869.2:n.1269T>G
NR_134869.3:n.1269T>G