Canonical Allele Identifier: CA2186743270
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345485G= , CM000677.2:g.72345485G= GRCh38
NC_000015.9:g.72637826G= , CM000677.1:g.72637826G= GRCh37
NC_000015.8:g.70424880G= NCBI36
NG_009017.1:g.35695C=
NG_009017.2:g.35695C=

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.*147C= ENSP00000457521.2:n.*147C=
ENST00000682061.1:c.*1833C= ENSP00000508316.1:n.*1833C=
ENST00000682064.1:n.1714C=
ENST00000682177.1:c.1530C= ENSP00000507409.1:n.1530C=
ENST00000682235.1:n.1510C=
ENST00000682461.1:c.1593C= ENSP00000507308.1:n.1593C=
ENST00000682653.1:n.2491C=
ENST00000682657.1:c.*1324C= ENSP00000507753.1:n.*1324C=
ENST00000682721.1:c.*1290C= ENSP00000507535.1:n.*1290C=
ENST00000682843.1:c.*1128C= ENSP00000508173.1:n.*1128C=
ENST00000683003.1:c.*1324C= ENSP00000507576.1:n.*1324C=
ENST00000683133.1:c.1671C= ENSP00000508108.1:n.1671C=
ENST00000683243.1:c.*640C= ENSP00000507042.1:n.*640C=
ENST00000683463.1:c.*976C= ENSP00000507986.1:n.*976C=
ENST00000683548.1:n.1945C=
ENST00000683579.1:c.*1385C= ENSP00000506867.1:n.*1385C=
ENST00000683587.1:n.2018C=
ENST00000683681.1:c.*165C= ENSP00000508110.1:n.*165C=
ENST00000683735.1:c.*1885C= ENSP00000508336.1:n.*1885C=
ENST00000683853.1:c.*292C= ENSP00000506834.1:n.*292C=
ENST00000683860.1:c.*607C= ENSP00000507179.1:n.*607C=
ENST00000683884.1:c.*814C= ENSP00000507004.1:n.*814C=
ENST00000684041.1:c.*620C= ENSP00000508382.1:n.*620C=
ENST00000684125.1:c.*147C= ENSP00000507320.1:n.*147C=
ENST00000684203.1:n.3936C=
ENST00000684231.1:c.*897C= ENSP00000507748.1:n.*897C=
ENST00000684263.1:c.*1111C= ENSP00000508369.1:n.*1111C=
ENST00000684305.1:c.1935C= ENSP00000506819.1:n.1935C=
ENST00000684415.1:c.*1038C= ENSP00000507227.1:n.*1038C=
ENST00000684520.1:c.*746C= ENSP00000506826.1:n.*746C=
ENST00000684602.1:c.*1153C= ENSP00000507996.1:n.*1153C=
ENST00000684667.1:c.1818C= ENSP00000507003.1:n.1818C=
ENST00000268097.10:c.1487C= MANE Select ENSP00000268097.6:p.Ala496=
ENST00000268097.9:c.1487C= ENSP00000268097.5:p.Ala496=
ENST00000379915.4:c.569C= ENSP00000478716.1:p.Ala190=
ENST00000564677.5:n.279C=
ENST00000565873.1:n.398C=
ENST00000566304.5:c.1520C= ENSP00000455114.1:p.Ala507=
ENST00000567027.5:c.1102C=
ENST00000567159.5:c.1487C= ENSP00000456489.1:p.Ala496=
ENST00000567411.5:c.*1008C= ENSP00000455545.1:n.*1008C=
ENST00000568777.5:n.6707C=
ENST00000569116.1:n.194C=
NM_000520.4:c.1487C= NP_000511.2:p.Ala496=
NM_000520.5:c.1487C= NP_000511.2:p.Ala496=
NM_001318825.1:c.1520C= NP_001305754.1:p.Ala507=
NR_134869.1:n.1731C=
NM_000520.6:c.1487C= MANE Select NP_000511.2:p.Ala496=
NM_001318825.2:c.1520C= NP_001305754.1:p.Ala507=
NR_134869.2:n.1272C=
NR_134869.3:n.1272C=