Canonical Allele Identifier: CA2186743734
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346684C= , CM000677.2:g.72346684C= GRCh38
NC_000015.9:g.72639025C= , CM000677.1:g.72639025C= GRCh37
NC_000015.8:g.70426079C= NCBI36
NG_009017.1:g.34496G=
NG_009017.2:g.34496G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-359G= ENSP00000457521.2:n.1074-359G=
ENST00000682061.1:c.*835G= ENSP00000508316.1:n.*835G=
ENST00000682064.1:n.515G=
ENST00000682177.1:c.1216G= ENSP00000507409.1:n.1216G=
ENST00000682235.1:n.512G=
ENST00000682461.1:c.1279G= ENSP00000507308.1:n.1279G=
ENST00000682653.1:n.1493G=
ENST00000682657.1:c.*484-359G= ENSP00000507753.1:n.*484-359G=
ENST00000682721.1:c.*976G= ENSP00000507535.1:n.*976G=
ENST00000682843.1:c.*972-359G= ENSP00000508173.1:n.*972-359G=
ENST00000683003.1:c.*484-359G= ENSP00000507576.1:n.*484-359G=
ENST00000683133.1:c.1357G= ENSP00000508108.1:n.1357G=
ENST00000683243.1:c.*484-359G= ENSP00000507042.1:n.*484-359G=
ENST00000683463.1:c.1100G= ENSP00000507986.1:p.Cys367=
ENST00000683548.1:n.1105-359G=
ENST00000683579.1:c.*1071G= ENSP00000506867.1:n.*1071G=
ENST00000683587.1:n.1178-359G=
ENST00000683681.1:c.1173G= ENSP00000508110.1:p.Val391=
ENST00000683735.1:c.*1045-359G= ENSP00000508336.1:n.*1045-359G=
ENST00000683853.1:c.1100G= ENSP00000506834.1:p.Cys367=
ENST00000683860.1:c.1173G= ENSP00000507179.1:p.Val391=
ENST00000683884.1:c.1147-359G= ENSP00000507004.1:n.1147-359G=
ENST00000684041.1:c.1173G= ENSP00000508382.1:p.Val391=
ENST00000684125.1:c.1074-359G= ENSP00000507320.1:n.1074-359G=
ENST00000684203.1:n.2938G=
ENST00000684231.1:c.*583G= ENSP00000507748.1:n.*583G=
ENST00000684263.1:c.*113G= ENSP00000508369.1:n.*113G=
ENST00000684305.1:c.1621G= ENSP00000506819.1:n.1621G=
ENST00000684415.1:c.*40G= ENSP00000507227.1:n.*40G=
ENST00000684520.1:c.1173G= ENSP00000506826.1:p.Val391=
ENST00000684602.1:c.*839G= ENSP00000507996.1:n.*839G=
ENST00000684667.1:c.1504G= ENSP00000507003.1:n.1504G=
ENST00000268097.10:c.1173G= MANE Select ENSP00000268097.6:p.Val391=
ENST00000268097.9:c.1173G= ENSP00000268097.5:p.Val391=
ENST00000379915.4:c.413-359G= ENSP00000478716.1:n.413-359G=
ENST00000563762.5:c.826-359G= ENSP00000456346.1:n.826-359G=
ENST00000566304.5:c.1206G= ENSP00000455114.1:p.Val402=
ENST00000566672.5:c.*583G= ENSP00000457037.1:n.*583G=
ENST00000567027.5:c.946-359G=
ENST00000567159.5:c.1173G= ENSP00000456489.1:p.Val391=
ENST00000567411.5:c.*694G= ENSP00000455545.1:n.*694G=
ENST00000568777.5:n.6551-359G=
ENST00000569410.5:c.1100G= ENSP00000457125.1:p.Cys367=
NM_000520.4:c.1173G= NP_000511.2:p.Val391=
NM_000520.5:c.1173G= NP_000511.2:p.Val391=
NM_001318825.1:c.1206G= NP_001305754.1:p.Val402=
NR_134869.1:n.1575-359G=
NM_000520.6:c.1173G= MANE Select NP_000511.2:p.Val391=
NM_001318825.2:c.1206G= NP_001305754.1:p.Val402=
NR_134869.2:n.1116-359G=
NR_134869.3:n.1116-359G=