Canonical Allele Identifier: CA16044210
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 375351
ClinVar RCV Id: RCV000416426
dbSNP Id: rs1057519459

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72353687T>G , CM000677.2:g.72353687T>G GRCh38
NC_000015.9:g.72646028T>G , CM000677.1:g.72646028T>G GRCh37
NC_000015.8:g.70433082T>G NCBI36
NG_009017.1:g.27493A>C
NG_009017.2:g.27493A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000563908.2:n.2297A>C
ENST00000567027.6:c.459+4A>C ENSP00000457521.2:n.459+4A>C
ENST00000568260.2:c.480-509A>C ENSP00000458128.2:n.480-509A>C
ENST00000682061.1:c.*121+4A>C ENSP00000508316.1:n.*121+4A>C
ENST00000682177.1:c.459+4A>C ENSP00000507409.1:n.459+4A>C
ENST00000682461.1:c.676+1872A>C ENSP00000507308.1:n.676+1872A>C
ENST00000682653.1:n.490+4A>C
ENST00000682657.1:c.254-2453A>C ENSP00000507753.1:n.254-2453A>C
ENST00000682721.1:c.*262+4A>C ENSP00000507535.1:n.*262+4A>C
ENST00000682843.1:c.*357+4A>C ENSP00000508173.1:n.*357+4A>C
ENST00000683003.1:c.412+1872A>C ENSP00000507576.1:n.412+1872A>C
ENST00000683133.1:c.643+4A>C ENSP00000508108.1:n.643+4A>C
ENST00000683228.1:n.490+4A>C
ENST00000683243.1:c.412+1872A>C ENSP00000507042.1:n.412+1872A>C
ENST00000683463.1:c.459+4A>C ENSP00000507986.1:n.459+4A>C
ENST00000683548.1:n.490+4A>C
ENST00000683579.1:c.*357+4A>C ENSP00000506867.1:n.*357+4A>C
ENST00000683587.1:n.490+4A>C
ENST00000683681.1:c.459+4A>C ENSP00000508110.1:n.459+4A>C
ENST00000683735.1:c.*357+4A>C ENSP00000508336.1:n.*357+4A>C
ENST00000683853.1:c.459+4A>C ENSP00000506834.1:n.459+4A>C
ENST00000683860.1:c.459+4A>C ENSP00000507179.1:n.459+4A>C
ENST00000683884.1:c.459+4A>C ENSP00000507004.1:n.459+4A>C
ENST00000684041.1:c.459+4A>C ENSP00000508382.1:n.459+4A>C
ENST00000684125.1:c.459+4A>C ENSP00000507320.1:n.459+4A>C
ENST00000684203.1:n.2297+4A>C
ENST00000684231.1:c.412+1872A>C ENSP00000507748.1:n.412+1872A>C
ENST00000684263.1:c.459+4A>C ENSP00000508369.1:n.459+4A>C
ENST00000684305.1:c.907+4A>C ENSP00000506819.1:n.907+4A>C
ENST00000684415.1:c.459+4A>C ENSP00000507227.1:n.459+4A>C
ENST00000684520.1:c.459+4A>C ENSP00000506826.1:n.459+4A>C
ENST00000684602.1:c.*236+1872A>C ENSP00000507996.1:n.*236+1872A>C
ENST00000684667.1:c.790+4A>C ENSP00000507003.1:n.790+4A>C
ENST00000268097.10:c.459+4A>C MANE Select ENSP00000268097.6:n.459+4A>C
ENST00000268097.9:c.459+4A>C ENSP00000268097.5:n.459+4A>C
ENST00000379915.4:c.412+1872A>C ENSP00000478716.1:n.412+1872A>C
ENST00000563762.5:c.503+1872A>C ENSP00000456346.1:n.503+1872A>C
ENST00000566304.5:c.492+4A>C ENSP00000455114.1:n.492+4A>C
ENST00000566672.5:c.412+1872A>C ENSP00000457037.1:n.412+1872A>C
ENST00000567027.5:c.331+4A>C
ENST00000567159.5:c.459+4A>C ENSP00000456489.1:n.459+4A>C
ENST00000567411.5:c.413-509A>C ENSP00000455545.1:n.413-509A>C
ENST00000568260.1:c.461-509A>C
ENST00000568777.5:n.5863+4A>C
ENST00000569410.5:c.459+4A>C ENSP00000457125.1:n.459+4A>C
ENST00000569509.5:n.417+1872A>C
NM_000520.4:c.459+4A>C NP_000511.2:n.459+4A>C
NM_000520.5:c.459+4A>C NP_000511.2:n.459+4A>C
NM_001318825.1:c.492+4A>C NP_001305754.1:n.492+4A>C
NR_134869.1:n.960+4A>C
NM_000520.6:c.459+4A>C MANE Select NP_000511.2:n.459+4A>C
NM_001318825.2:c.492+4A>C NP_001305754.1:n.492+4A>C
NR_134869.2:n.501+4A>C
NR_134869.3:n.501+4A>C