Canonical Allele Identifier: CA2186745422
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72350518C= , CM000677.2:g.72350518C= GRCh38
NC_000015.9:g.72642859C= , CM000677.1:g.72642859C= GRCh37
NC_000015.8:g.70429913C= NCBI36
NG_009017.1:g.30662G=
NG_009017.2:g.30662G=

Transcript Alleles

HGVS Amino-acid change
ENST00000563908.2:n.3151G=
ENST00000567027.6:c.805G= ENSP00000457521.2:p.Gly269=
ENST00000682061.1:c.*467G= ENSP00000508316.1:n.*467G=
ENST00000682177.1:c.848G= ENSP00000507409.1:n.848G=
ENST00000682461.1:c.911G= ENSP00000507308.1:n.911G=
ENST00000682653.1:n.836G=
ENST00000682657.1:c.*215G= ENSP00000507753.1:n.*215G=
ENST00000682721.1:c.*608G= ENSP00000507535.1:n.*608G=
ENST00000682843.1:c.*703G= ENSP00000508173.1:n.*703G=
ENST00000683003.1:c.*215G= ENSP00000507576.1:n.*215G=
ENST00000683133.1:c.989G= ENSP00000508108.1:n.989G=
ENST00000683228.1:n.836G=
ENST00000683243.1:c.*215G= ENSP00000507042.1:n.*215G=
ENST00000683463.1:c.805G= ENSP00000507986.1:p.Gly269=
ENST00000683548.1:n.836G=
ENST00000683579.1:c.*703G= ENSP00000506867.1:n.*703G=
ENST00000683587.1:n.836G=
ENST00000683681.1:c.805G= ENSP00000508110.1:p.Gly269=
ENST00000683735.1:c.*703G= ENSP00000508336.1:n.*703G=
ENST00000683742.1:n.636G=
ENST00000683853.1:c.805G= ENSP00000506834.1:p.Gly269=
ENST00000683860.1:c.805G= ENSP00000507179.1:p.Gly269=
ENST00000683884.1:c.805G= ENSP00000507004.1:p.Gly269=
ENST00000684041.1:c.805G= ENSP00000508382.1:p.Gly269=
ENST00000684125.1:c.805G= ENSP00000507320.1:p.Gly269=
ENST00000684203.1:n.2643G=
ENST00000684231.1:c.*215G= ENSP00000507748.1:n.*215G=
ENST00000684263.1:c.805G= ENSP00000508369.1:p.Gly269=
ENST00000684305.1:c.1253G= ENSP00000506819.1:n.1253G=
ENST00000684415.1:c.805G= ENSP00000507227.1:p.Gly269=
ENST00000684520.1:c.805G= ENSP00000506826.1:p.Gly269=
ENST00000684602.1:c.*471G= ENSP00000507996.1:n.*471G=
ENST00000684667.1:c.1136G= ENSP00000507003.1:n.1136G=
ENST00000268097.10:c.805G= MANE Select ENSP00000268097.6:p.Gly269=
ENST00000268097.9:c.805G= ENSP00000268097.5:p.Gly269=
ENST00000379915.4:c.413-4193G= ENSP00000478716.1:n.413-4193G=
ENST00000563762.5:c.738G= ENSP00000456346.1:n.738G=
ENST00000566304.5:c.838G= ENSP00000455114.1:p.Gly280=
ENST00000566672.5:c.*215G= ENSP00000457037.1:n.*215G=
ENST00000567027.5:c.677G=
ENST00000567159.5:c.805G= ENSP00000456489.1:p.Gly269=
ENST00000567411.5:c.*326G= ENSP00000455545.1:n.*326G=
ENST00000568777.5:n.6209G=
ENST00000569410.5:c.805G= ENSP00000457125.1:p.Gly269=
NM_000520.4:c.805G= NP_000511.2:p.Gly269=
NM_000520.5:c.805G= NP_000511.2:p.Gly269=
NM_001318825.1:c.838G= NP_001305754.1:p.Gly280=
NR_134869.1:n.1306G=
NM_000520.6:c.805G= MANE Select NP_000511.2:p.Gly269=
NM_001318825.2:c.838G= NP_001305754.1:p.Gly280=
NR_134869.2:n.847G=
NR_134869.3:n.847G=