Canonical Allele Identifier: CA393058755
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345509T>C , CM000677.2:g.72345509T>C GRCh38
NC_000015.9:g.72637850T>C , CM000677.1:g.72637850T>C GRCh37
NC_000015.8:g.70424904T>C NCBI36
NG_009017.1:g.35671A>G
NG_009017.2:g.35671A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*123A>G ENSP00000457521.2:n.*123A>G
ENST00000682061.1:c.*1809A>G ENSP00000508316.1:n.*1809A>G
ENST00000682064.1:n.1690A>G
ENST00000682177.1:c.1506A>G ENSP00000507409.1:n.1506A>G
ENST00000682235.1:n.1486A>G
ENST00000682461.1:c.1569A>G ENSP00000507308.1:n.1569A>G
ENST00000682653.1:n.2467A>G
ENST00000682657.1:c.*1300A>G ENSP00000507753.1:n.*1300A>G
ENST00000682721.1:c.*1266A>G ENSP00000507535.1:n.*1266A>G
ENST00000682843.1:c.*1104A>G ENSP00000508173.1:n.*1104A>G
ENST00000683003.1:c.*1300A>G ENSP00000507576.1:n.*1300A>G
ENST00000683133.1:c.1647A>G ENSP00000508108.1:n.1647A>G
ENST00000683243.1:c.*616A>G ENSP00000507042.1:n.*616A>G
ENST00000683463.1:c.*952A>G ENSP00000507986.1:n.*952A>G
ENST00000683548.1:n.1921A>G
ENST00000683579.1:c.*1361A>G ENSP00000506867.1:n.*1361A>G
ENST00000683587.1:n.1994A>G
ENST00000683681.1:c.*141A>G ENSP00000508110.1:n.*141A>G
ENST00000683735.1:c.*1861A>G ENSP00000508336.1:n.*1861A>G
ENST00000683853.1:c.*268A>G ENSP00000506834.1:n.*268A>G
ENST00000683860.1:c.*583A>G ENSP00000507179.1:n.*583A>G
ENST00000683884.1:c.*790A>G ENSP00000507004.1:n.*790A>G
ENST00000684041.1:c.*596A>G ENSP00000508382.1:n.*596A>G
ENST00000684125.1:c.*123A>G ENSP00000507320.1:n.*123A>G
ENST00000684203.1:n.3912A>G
ENST00000684231.1:c.*873A>G ENSP00000507748.1:n.*873A>G
ENST00000684263.1:c.*1087A>G ENSP00000508369.1:n.*1087A>G
ENST00000684305.1:c.1911A>G ENSP00000506819.1:n.1911A>G
ENST00000684415.1:c.*1014A>G ENSP00000507227.1:n.*1014A>G
ENST00000684520.1:c.*722A>G ENSP00000506826.1:n.*722A>G
ENST00000684602.1:c.*1129A>G ENSP00000507996.1:n.*1129A>G
ENST00000684667.1:c.1794A>G ENSP00000507003.1:n.1794A>G
ENST00000268097.10:c.1463A>G MANE Select ENSP00000268097.6:p.Lys488Arg
ENST00000268097.9:c.1463A>G ENSP00000268097.5:p.Lys488Arg
ENST00000379915.4:c.545A>G ENSP00000478716.1:p.Lys182Arg
ENST00000564677.5:n.255A>G
ENST00000565873.1:n.374A>G
ENST00000566304.5:c.1496A>G ENSP00000455114.1:p.Lys499Arg
ENST00000567027.5:c.1078A>G
ENST00000567159.5:c.1463A>G ENSP00000456489.1:p.Lys488Arg
ENST00000567411.5:c.*984A>G ENSP00000455545.1:n.*984A>G
ENST00000568777.5:n.6683A>G
ENST00000569116.1:n.170A>G
NM_000520.4:c.1463A>G NP_000511.2:p.Lys488Arg
NM_000520.5:c.1463A>G NP_000511.2:p.Lys488Arg
NM_001318825.1:c.1496A>G NP_001305754.1:p.Lys499Arg
NR_134869.1:n.1707A>G
NM_000520.6:c.1463A>G MANE Select NP_000511.2:p.Lys488Arg
NM_001318825.2:c.1496A>G NP_001305754.1:p.Lys499Arg
NR_134869.2:n.1248A>G
NR_134869.3:n.1248A>G