Canonical Allele Identifier: CA393058832
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345525T>C , CM000677.2:g.72345525T>C GRCh38
NC_000015.9:g.72637866T>C , CM000677.1:g.72637866T>C GRCh37
NC_000015.8:g.70424920T>C NCBI36
NG_009017.1:g.35655A>G
NG_009017.2:g.35655A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*107A>G ENSP00000457521.2:n.*107A>G
ENST00000682061.1:c.*1793A>G ENSP00000508316.1:n.*1793A>G
ENST00000682064.1:n.1674A>G
ENST00000682177.1:c.1490A>G ENSP00000507409.1:n.1490A>G
ENST00000682235.1:n.1470A>G
ENST00000682461.1:c.1553A>G ENSP00000507308.1:n.1553A>G
ENST00000682653.1:n.2451A>G
ENST00000682657.1:c.*1284A>G ENSP00000507753.1:n.*1284A>G
ENST00000682721.1:c.*1250A>G ENSP00000507535.1:n.*1250A>G
ENST00000682843.1:c.*1088A>G ENSP00000508173.1:n.*1088A>G
ENST00000683003.1:c.*1284A>G ENSP00000507576.1:n.*1284A>G
ENST00000683133.1:c.1631A>G ENSP00000508108.1:n.1631A>G
ENST00000683243.1:c.*600A>G ENSP00000507042.1:n.*600A>G
ENST00000683463.1:c.*936A>G ENSP00000507986.1:n.*936A>G
ENST00000683548.1:n.1905A>G
ENST00000683579.1:c.*1345A>G ENSP00000506867.1:n.*1345A>G
ENST00000683587.1:n.1978A>G
ENST00000683681.1:c.*125A>G ENSP00000508110.1:n.*125A>G
ENST00000683735.1:c.*1845A>G ENSP00000508336.1:n.*1845A>G
ENST00000683853.1:c.*252A>G ENSP00000506834.1:n.*252A>G
ENST00000683860.1:c.*567A>G ENSP00000507179.1:n.*567A>G
ENST00000683884.1:c.*774A>G ENSP00000507004.1:n.*774A>G
ENST00000684041.1:c.*580A>G ENSP00000508382.1:n.*580A>G
ENST00000684125.1:c.*107A>G ENSP00000507320.1:n.*107A>G
ENST00000684203.1:n.3896A>G
ENST00000684231.1:c.*857A>G ENSP00000507748.1:n.*857A>G
ENST00000684263.1:c.*1071A>G ENSP00000508369.1:n.*1071A>G
ENST00000684305.1:c.1895A>G ENSP00000506819.1:n.1895A>G
ENST00000684415.1:c.*998A>G ENSP00000507227.1:n.*998A>G
ENST00000684520.1:c.*706A>G ENSP00000506826.1:n.*706A>G
ENST00000684602.1:c.*1113A>G ENSP00000507996.1:n.*1113A>G
ENST00000684667.1:c.1778A>G ENSP00000507003.1:n.1778A>G
ENST00000268097.10:c.1447A>G MANE Select ENSP00000268097.6:p.Arg483Gly
ENST00000268097.9:c.1447A>G ENSP00000268097.5:p.Arg483Gly
ENST00000379915.4:c.529A>G ENSP00000478716.1:p.Arg177Gly
ENST00000564677.5:n.239A>G
ENST00000565873.1:n.358A>G
ENST00000566304.5:c.1480A>G ENSP00000455114.1:p.Arg494Gly
ENST00000567027.5:c.1062A>G
ENST00000567159.5:c.1447A>G ENSP00000456489.1:p.Arg483Gly
ENST00000567411.5:c.*968A>G ENSP00000455545.1:n.*968A>G
ENST00000568777.5:n.6667A>G
ENST00000569116.1:n.154A>G
NM_000520.4:c.1447A>G NP_000511.2:p.Arg483Gly
NM_000520.5:c.1447A>G NP_000511.2:p.Arg483Gly
NM_001318825.1:c.1480A>G NP_001305754.1:p.Arg494Gly
NR_134869.1:n.1691A>G
NM_000520.6:c.1447A>G MANE Select NP_000511.2:p.Arg483Gly
NM_001318825.2:c.1480A>G NP_001305754.1:p.Arg494Gly
NR_134869.2:n.1232A>G
NR_134869.3:n.1232A>G