Canonical Allele Identifier: CA2186743267
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345478T= , CM000677.2:g.72345478T= GRCh38
NC_000015.9:g.72637819T= , CM000677.1:g.72637819T= GRCh37
NC_000015.8:g.70424873T= NCBI36
NG_009017.1:g.35702A=
NG_009017.2:g.35702A=

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.*154A= ENSP00000457521.2:n.*154A=
ENST00000682061.1:c.*1840A= ENSP00000508316.1:n.*1840A=
ENST00000682064.1:n.1721A=
ENST00000682177.1:c.1537A= ENSP00000507409.1:n.1537A=
ENST00000682235.1:n.1517A=
ENST00000682461.1:c.1600A= ENSP00000507308.1:n.1600A=
ENST00000682653.1:n.2498A=
ENST00000682657.1:c.*1331A= ENSP00000507753.1:n.*1331A=
ENST00000682721.1:c.*1297A= ENSP00000507535.1:n.*1297A=
ENST00000682843.1:c.*1135A= ENSP00000508173.1:n.*1135A=
ENST00000683003.1:c.*1331A= ENSP00000507576.1:n.*1331A=
ENST00000683133.1:c.1678A= ENSP00000508108.1:n.1678A=
ENST00000683243.1:c.*647A= ENSP00000507042.1:n.*647A=
ENST00000683463.1:c.*983A= ENSP00000507986.1:n.*983A=
ENST00000683548.1:n.1952A=
ENST00000683579.1:c.*1392A= ENSP00000506867.1:n.*1392A=
ENST00000683587.1:n.2025A=
ENST00000683681.1:c.*172A= ENSP00000508110.1:n.*172A=
ENST00000683735.1:c.*1892A= ENSP00000508336.1:n.*1892A=
ENST00000683853.1:c.*299A= ENSP00000506834.1:n.*299A=
ENST00000683860.1:c.*614A= ENSP00000507179.1:n.*614A=
ENST00000683884.1:c.*821A= ENSP00000507004.1:n.*821A=
ENST00000684041.1:c.*627A= ENSP00000508382.1:n.*627A=
ENST00000684125.1:c.*154A= ENSP00000507320.1:n.*154A=
ENST00000684203.1:n.3943A=
ENST00000684231.1:c.*904A= ENSP00000507748.1:n.*904A=
ENST00000684263.1:c.*1118A= ENSP00000508369.1:n.*1118A=
ENST00000684305.1:c.1942A= ENSP00000506819.1:n.1942A=
ENST00000684415.1:c.*1045A= ENSP00000507227.1:n.*1045A=
ENST00000684520.1:c.*753A= ENSP00000506826.1:n.*753A=
ENST00000684602.1:c.*1160A= ENSP00000507996.1:n.*1160A=
ENST00000684667.1:c.1825A= ENSP00000507003.1:n.1825A=
ENST00000268097.10:c.1494A= MANE Select ENSP00000268097.6:p.Glu498=
ENST00000268097.9:c.1494A= ENSP00000268097.5:p.Glu498=
ENST00000379915.4:c.576A= ENSP00000478716.1:p.Glu192=
ENST00000564677.5:n.286A=
ENST00000565873.1:n.405A=
ENST00000566304.5:c.1527A= ENSP00000455114.1:p.Glu509=
ENST00000567027.5:c.1109A=
ENST00000567159.5:c.1494A= ENSP00000456489.1:p.Glu498=
ENST00000567411.5:c.*1015A= ENSP00000455545.1:n.*1015A=
ENST00000568777.5:n.6714A=
ENST00000569116.1:n.201A=
NM_000520.4:c.1494A= NP_000511.2:p.Glu498=
NM_000520.5:c.1494A= NP_000511.2:p.Glu498=
NM_001318825.1:c.1527A= NP_001305754.1:p.Glu509=
NR_134869.1:n.1738A=
NM_000520.6:c.1494A= MANE Select NP_000511.2:p.Glu498=
NM_001318825.2:c.1527A= NP_001305754.1:p.Glu509=
NR_134869.2:n.1279A=
NR_134869.3:n.1279A=