Canonical Allele Identifier: CA393058746
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345507A>C , CM000677.2:g.72345507A>C GRCh38
NC_000015.9:g.72637848A>C , CM000677.1:g.72637848A>C GRCh37
NC_000015.8:g.70424902A>C NCBI36
NG_009017.1:g.35673T>G
NG_009017.2:g.35673T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*125T>G ENSP00000457521.2:n.*125T>G
ENST00000682061.1:c.*1811T>G ENSP00000508316.1:n.*1811T>G
ENST00000682064.1:n.1692T>G
ENST00000682177.1:c.1508T>G ENSP00000507409.1:n.1508T>G
ENST00000682235.1:n.1488T>G
ENST00000682461.1:c.1571T>G ENSP00000507308.1:n.1571T>G
ENST00000682653.1:n.2469T>G
ENST00000682657.1:c.*1302T>G ENSP00000507753.1:n.*1302T>G
ENST00000682721.1:c.*1268T>G ENSP00000507535.1:n.*1268T>G
ENST00000682843.1:c.*1106T>G ENSP00000508173.1:n.*1106T>G
ENST00000683003.1:c.*1302T>G ENSP00000507576.1:n.*1302T>G
ENST00000683133.1:c.1649T>G ENSP00000508108.1:n.1649T>G
ENST00000683243.1:c.*618T>G ENSP00000507042.1:n.*618T>G
ENST00000683463.1:c.*954T>G ENSP00000507986.1:n.*954T>G
ENST00000683548.1:n.1923T>G
ENST00000683579.1:c.*1363T>G ENSP00000506867.1:n.*1363T>G
ENST00000683587.1:n.1996T>G
ENST00000683681.1:c.*143T>G ENSP00000508110.1:n.*143T>G
ENST00000683735.1:c.*1863T>G ENSP00000508336.1:n.*1863T>G
ENST00000683853.1:c.*270T>G ENSP00000506834.1:n.*270T>G
ENST00000683860.1:c.*585T>G ENSP00000507179.1:n.*585T>G
ENST00000683884.1:c.*792T>G ENSP00000507004.1:n.*792T>G
ENST00000684041.1:c.*598T>G ENSP00000508382.1:n.*598T>G
ENST00000684125.1:c.*125T>G ENSP00000507320.1:n.*125T>G
ENST00000684203.1:n.3914T>G
ENST00000684231.1:c.*875T>G ENSP00000507748.1:n.*875T>G
ENST00000684263.1:c.*1089T>G ENSP00000508369.1:n.*1089T>G
ENST00000684305.1:c.1913T>G ENSP00000506819.1:n.1913T>G
ENST00000684415.1:c.*1016T>G ENSP00000507227.1:n.*1016T>G
ENST00000684520.1:c.*724T>G ENSP00000506826.1:n.*724T>G
ENST00000684602.1:c.*1131T>G ENSP00000507996.1:n.*1131T>G
ENST00000684667.1:c.1796T>G ENSP00000507003.1:n.1796T>G
ENST00000268097.10:c.1465T>G MANE Select ENSP00000268097.6:p.Leu489Val
ENST00000268097.9:c.1465T>G ENSP00000268097.5:p.Leu489Val
ENST00000379915.4:c.547T>G ENSP00000478716.1:p.Leu183Val
ENST00000564677.5:n.257T>G
ENST00000565873.1:n.376T>G
ENST00000566304.5:c.1498T>G ENSP00000455114.1:p.Leu500Val
ENST00000567027.5:c.1080T>G
ENST00000567159.5:c.1465T>G ENSP00000456489.1:p.Leu489Val
ENST00000567411.5:c.*986T>G ENSP00000455545.1:n.*986T>G
ENST00000568777.5:n.6685T>G
ENST00000569116.1:n.172T>G
NM_000520.4:c.1465T>G NP_000511.2:p.Leu489Val
NM_000520.5:c.1465T>G NP_000511.2:p.Leu489Val
NM_001318825.1:c.1498T>G NP_001305754.1:p.Leu500Val
NR_134869.1:n.1709T>G
NM_000520.6:c.1465T>G MANE Select NP_000511.2:p.Leu489Val
NM_001318825.2:c.1498T>G NP_001305754.1:p.Leu500Val
NR_134869.2:n.1250T>G
NR_134869.3:n.1250T>G