Canonical Allele Identifier: CA2186743280
Gene: HEXA HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*123A= ENSP00000457521.2:n.*123A=
ENST00000682061.1:c.*1809A= ENSP00000508316.1:n.*1809A=
ENST00000682064.1:n.1690A=
ENST00000682177.1:c.1506A= ENSP00000507409.1:n.1506A=
ENST00000682235.1:n.1486A=
ENST00000682461.1:c.1569A= ENSP00000507308.1:n.1569A=
ENST00000682653.1:n.2467A=
ENST00000682657.1:c.*1300A= ENSP00000507753.1:n.*1300A=
ENST00000682721.1:c.*1266A= ENSP00000507535.1:n.*1266A=
ENST00000682843.1:c.*1104A= ENSP00000508173.1:n.*1104A=
ENST00000683003.1:c.*1300A= ENSP00000507576.1:n.*1300A=
ENST00000683133.1:c.1647A= ENSP00000508108.1:n.1647A=
ENST00000683243.1:c.*616A= ENSP00000507042.1:n.*616A=
ENST00000683463.1:c.*952A= ENSP00000507986.1:n.*952A=
ENST00000683548.1:n.1921A=
ENST00000683579.1:c.*1361A= ENSP00000506867.1:n.*1361A=
ENST00000683587.1:n.1994A=
ENST00000683681.1:c.*141A= ENSP00000508110.1:n.*141A=
ENST00000683735.1:c.*1861A= ENSP00000508336.1:n.*1861A=
ENST00000683853.1:c.*268A= ENSP00000506834.1:n.*268A=
ENST00000683860.1:c.*583A= ENSP00000507179.1:n.*583A=
ENST00000683884.1:c.*790A= ENSP00000507004.1:n.*790A=
ENST00000684041.1:c.*596A= ENSP00000508382.1:n.*596A=
ENST00000684125.1:c.*123A= ENSP00000507320.1:n.*123A=
ENST00000684203.1:n.3912A=
ENST00000684231.1:c.*873A= ENSP00000507748.1:n.*873A=
ENST00000684263.1:c.*1087A= ENSP00000508369.1:n.*1087A=
ENST00000684305.1:c.1911A= ENSP00000506819.1:n.1911A=
ENST00000684415.1:c.*1014A= ENSP00000507227.1:n.*1014A=
ENST00000684520.1:c.*722A= ENSP00000506826.1:n.*722A=
ENST00000684602.1:c.*1129A= ENSP00000507996.1:n.*1129A=
ENST00000684667.1:c.1794A= ENSP00000507003.1:n.1794A=
ENST00000268097.10:c.1463A= MANE Select ENSP00000268097.6:p.Lys488=
ENST00000268097.9:c.1463A= ENSP00000268097.5:p.Lys488=
ENST00000379915.4:c.545A= ENSP00000478716.1:p.Lys182=
ENST00000564677.5:n.255A=
ENST00000565873.1:n.374A=
ENST00000566304.5:c.1496A= ENSP00000455114.1:p.Lys499=
ENST00000567027.5:c.1078A=
ENST00000567159.5:c.1463A= ENSP00000456489.1:p.Lys488=
ENST00000567411.5:c.*984A= ENSP00000455545.1:n.*984A=
ENST00000568777.5:n.6683A=
ENST00000569116.1:n.170A=
NM_000520.4:c.1463A= NP_000511.2:p.Lys488=
NM_000520.5:c.1463A= NP_000511.2:p.Lys488=
NM_001318825.1:c.1496A= NP_001305754.1:p.Lys499=
NR_134869.1:n.1707A=
NM_000520.6:c.1463A= MANE Select NP_000511.2:p.Lys488=
NM_001318825.2:c.1496A= NP_001305754.1:p.Lys499=
NR_134869.2:n.1248A=
NR_134869.3:n.1248A=