Canonical Allele Identifier: CA2186744891
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72349204A= , CM000677.2:g.72349204A= GRCh38
NC_000015.9:g.72641545A= , CM000677.1:g.72641545A= GRCh37
NC_000015.8:g.70428599A= NCBI36
NG_009017.1:g.31976T=
NG_009017.2:g.31976T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000563908.2:n.3207T=
ENST00000567027.6:c.861T= ENSP00000457521.2:p.Phe287=
ENST00000682061.1:c.*523T= ENSP00000508316.1:n.*523T=
ENST00000682177.1:c.904T= ENSP00000507409.1:n.904T=
ENST00000682461.1:c.967T= ENSP00000507308.1:n.967T=
ENST00000682653.1:n.892T=
ENST00000682657.1:c.*271T= ENSP00000507753.1:n.*271T=
ENST00000682721.1:c.*664T= ENSP00000507535.1:n.*664T=
ENST00000682843.1:c.*759T= ENSP00000508173.1:n.*759T=
ENST00000683003.1:c.*271T= ENSP00000507576.1:n.*271T=
ENST00000683133.1:c.1045T= ENSP00000508108.1:n.1045T=
ENST00000683228.1:n.892T=
ENST00000683243.1:c.*271T= ENSP00000507042.1:n.*271T=
ENST00000683463.1:c.861T= ENSP00000507986.1:p.Phe287=
ENST00000683548.1:n.892T=
ENST00000683579.1:c.*759T= ENSP00000506867.1:n.*759T=
ENST00000683587.1:n.892T=
ENST00000683681.1:c.861T= ENSP00000508110.1:p.Phe287=
ENST00000683735.1:c.*759T= ENSP00000508336.1:n.*759T=
ENST00000683742.1:n.692T=
ENST00000683853.1:c.861T= ENSP00000506834.1:p.Phe287=
ENST00000683860.1:c.861T= ENSP00000507179.1:p.Phe287=
ENST00000683884.1:c.861T= ENSP00000507004.1:p.Phe287=
ENST00000684041.1:c.861T= ENSP00000508382.1:p.Phe287=
ENST00000684125.1:c.861T= ENSP00000507320.1:p.Phe287=
ENST00000684203.1:n.2699T=
ENST00000684231.1:c.*271T= ENSP00000507748.1:n.*271T=
ENST00000684263.1:c.861T= ENSP00000508369.1:p.Phe287=
ENST00000684305.1:c.1309T= ENSP00000506819.1:n.1309T=
ENST00000684415.1:c.861T= ENSP00000507227.1:p.Phe287=
ENST00000684520.1:c.861T= ENSP00000506826.1:p.Phe287=
ENST00000684602.1:c.*527T= ENSP00000507996.1:n.*527T=
ENST00000684667.1:c.1192T= ENSP00000507003.1:n.1192T=
ENST00000268097.10:c.861T= MANE Select ENSP00000268097.6:p.Phe287=
ENST00000268097.9:c.861T= ENSP00000268097.5:p.Phe287=
ENST00000379915.4:c.413-2879T= ENSP00000478716.1:n.413-2879T=
ENST00000563762.5:c.739-1070T= ENSP00000456346.1:n.739-1070T=
ENST00000566304.5:c.894T= ENSP00000455114.1:p.Phe298=
ENST00000566672.5:c.*271T= ENSP00000457037.1:n.*271T=
ENST00000567027.5:c.733T=
ENST00000567159.5:c.861T= ENSP00000456489.1:p.Phe287=
ENST00000567411.5:c.*382T= ENSP00000455545.1:n.*382T=
ENST00000568777.5:n.6265T=
ENST00000569410.5:c.861T= ENSP00000457125.1:p.Phe287=
NM_000520.4:c.861T= NP_000511.2:p.Phe287=
NM_000520.5:c.861T= NP_000511.2:p.Phe287=
NM_001318825.1:c.894T= NP_001305754.1:p.Phe298=
NR_134869.1:n.1362T=
NM_000520.6:c.861T= MANE Select NP_000511.2:p.Phe287=
NM_001318825.2:c.894T= NP_001305754.1:p.Phe298=
NR_134869.2:n.903T=
NR_134869.3:n.903T=