Canonical Allele Identifier: CA2186743559
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346274C= , CM000677.2:g.72346274C= GRCh38
NC_000015.9:g.72638615C= , CM000677.1:g.72638615C= GRCh37
NC_000015.8:g.70425669C= NCBI36
NG_009017.1:g.34906G=
NG_009017.2:g.34906G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*42G= ENSP00000457521.2:n.*42G=
ENST00000682061.1:c.*1044G= ENSP00000508316.1:n.*1044G=
ENST00000682064.1:n.925G=
ENST00000682177.1:c.1425G= ENSP00000507409.1:n.1425G=
ENST00000682235.1:n.721G=
ENST00000682461.1:c.1488G= ENSP00000507308.1:n.1488G=
ENST00000682653.1:n.1702G=
ENST00000682657.1:c.*535G= ENSP00000507753.1:n.*535G=
ENST00000682721.1:c.*1185G= ENSP00000507535.1:n.*1185G=
ENST00000682843.1:c.*1023G= ENSP00000508173.1:n.*1023G=
ENST00000683003.1:c.*535G= ENSP00000507576.1:n.*535G=
ENST00000683133.1:c.1566G= ENSP00000508108.1:n.1566G=
ENST00000683243.1:c.*535G= ENSP00000507042.1:n.*535G=
ENST00000683463.1:c.*187G= ENSP00000507986.1:n.*187G=
ENST00000683548.1:n.1156G=
ENST00000683579.1:c.*1280G= ENSP00000506867.1:n.*1280G=
ENST00000683587.1:n.1229G=
ENST00000683681.1:c.1382G= ENSP00000508110.1:p.Gly461=
ENST00000683735.1:c.*1096G= ENSP00000508336.1:n.*1096G=
ENST00000683853.1:c.*187G= ENSP00000506834.1:n.*187G=
ENST00000683860.1:c.1382G= ENSP00000507179.1:p.Gly461=
ENST00000683884.1:c.*25G= ENSP00000507004.1:n.*25G=
ENST00000684041.1:c.1382G= ENSP00000508382.1:p.Gly461=
ENST00000684125.1:c.*42G= ENSP00000507320.1:n.*42G=
ENST00000684203.1:n.3147G=
ENST00000684231.1:c.*792G= ENSP00000507748.1:n.*792G=
ENST00000684263.1:c.*322G= ENSP00000508369.1:n.*322G=
ENST00000684305.1:c.1830G= ENSP00000506819.1:n.1830G=
ENST00000684415.1:c.*249G= ENSP00000507227.1:n.*249G=
ENST00000684520.1:c.1382G= ENSP00000506826.1:p.Gly461=
ENST00000684602.1:c.*1048G= ENSP00000507996.1:n.*1048G=
ENST00000684667.1:c.1713G= ENSP00000507003.1:n.1713G=
ENST00000268097.10:c.1382G= MANE Select ENSP00000268097.6:p.Gly461=
ENST00000268097.9:c.1382G= ENSP00000268097.5:p.Gly461=
ENST00000379915.4:c.464G= ENSP00000478716.1:p.Gly155=
ENST00000563762.5:c.877G= ENSP00000456346.1:n.877G=
ENST00000566304.5:c.1415G= ENSP00000455114.1:p.Gly472=
ENST00000566672.5:c.*792G= ENSP00000457037.1:n.*792G=
ENST00000567027.5:c.997G=
ENST00000567159.5:c.1382G= ENSP00000456489.1:p.Gly461=
ENST00000567411.5:c.*903G= ENSP00000455545.1:n.*903G=
ENST00000568777.5:n.6602G=
ENST00000569410.5:c.*187G= ENSP00000457125.1:n.*187G=
NM_000520.4:c.1382G= NP_000511.2:p.Gly461=
NM_000520.5:c.1382G= NP_000511.2:p.Gly461=
NM_001318825.1:c.1415G= NP_001305754.1:p.Gly472=
NR_134869.1:n.1626G=
NM_000520.6:c.1382G= MANE Select NP_000511.2:p.Gly461=
NM_001318825.2:c.1415G= NP_001305754.1:p.Gly472=
NR_134869.2:n.1167G=
NR_134869.3:n.1167G=