Canonical Allele Identifier: CA2186743702
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346619C= , CM000677.2:g.72346619C= GRCh38
NC_000015.9:g.72638960C= , CM000677.1:g.72638960C= GRCh37
NC_000015.8:g.70426014C= NCBI36
NG_009017.1:g.34561G=
NG_009017.2:g.34561G=

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.1074-294G= ENSP00000457521.2:n.1074-294G=
ENST00000682061.1:c.*900G= ENSP00000508316.1:n.*900G=
ENST00000682064.1:n.580G=
ENST00000682177.1:c.1281G= ENSP00000507409.1:n.1281G=
ENST00000682235.1:n.577G=
ENST00000682461.1:c.1344G= ENSP00000507308.1:n.1344G=
ENST00000682653.1:n.1558G=
ENST00000682657.1:c.*484-294G= ENSP00000507753.1:n.*484-294G=
ENST00000682721.1:c.*1041G= ENSP00000507535.1:n.*1041G=
ENST00000682843.1:c.*972-294G= ENSP00000508173.1:n.*972-294G=
ENST00000683003.1:c.*484-294G= ENSP00000507576.1:n.*484-294G=
ENST00000683133.1:c.1422G= ENSP00000508108.1:n.1422G=
ENST00000683243.1:c.*484-294G= ENSP00000507042.1:n.*484-294G=
ENST00000683463.1:c.*43G= ENSP00000507986.1:n.*43G=
ENST00000683548.1:n.1105-294G=
ENST00000683579.1:c.*1136G= ENSP00000506867.1:n.*1136G=
ENST00000683587.1:n.1178-294G=
ENST00000683681.1:c.1238G= ENSP00000508110.1:p.Arg413=
ENST00000683735.1:c.*1045-294G= ENSP00000508336.1:n.*1045-294G=
ENST00000683853.1:c.*43G= ENSP00000506834.1:n.*43G=
ENST00000683860.1:c.1238G= ENSP00000507179.1:p.Arg413=
ENST00000683884.1:c.1147-294G= ENSP00000507004.1:n.1147-294G=
ENST00000684041.1:c.1238G= ENSP00000508382.1:p.Arg413=
ENST00000684125.1:c.1074-294G= ENSP00000507320.1:n.1074-294G=
ENST00000684203.1:n.3003G=
ENST00000684231.1:c.*648G= ENSP00000507748.1:n.*648G=
ENST00000684263.1:c.*178G= ENSP00000508369.1:n.*178G=
ENST00000684305.1:c.1686G= ENSP00000506819.1:n.1686G=
ENST00000684415.1:c.*105G= ENSP00000507227.1:n.*105G=
ENST00000684520.1:c.1238G= ENSP00000506826.1:p.Arg413=
ENST00000684602.1:c.*904G= ENSP00000507996.1:n.*904G=
ENST00000684667.1:c.1569G= ENSP00000507003.1:n.1569G=
ENST00000268097.10:c.1238G= MANE Select ENSP00000268097.6:p.Arg413=
ENST00000268097.9:c.1238G= ENSP00000268097.5:p.Arg413=
ENST00000379915.4:c.413-294G= ENSP00000478716.1:n.413-294G=
ENST00000563762.5:c.826-294G= ENSP00000456346.1:n.826-294G=
ENST00000566304.5:c.1271G= ENSP00000455114.1:p.Arg424=
ENST00000566672.5:c.*648G= ENSP00000457037.1:n.*648G=
ENST00000567027.5:c.946-294G=
ENST00000567159.5:c.1238G= ENSP00000456489.1:p.Arg413=
ENST00000567411.5:c.*759G= ENSP00000455545.1:n.*759G=
ENST00000568777.5:n.6551-294G=
ENST00000569410.5:c.*43G= ENSP00000457125.1:n.*43G=
NM_000520.4:c.1238G= NP_000511.2:p.Arg413=
NM_000520.5:c.1238G= NP_000511.2:p.Arg413=
NM_001318825.1:c.1271G= NP_001305754.1:p.Arg424=
NR_134869.1:n.1575-294G=
NM_000520.6:c.1238G= MANE Select NP_000511.2:p.Arg413=
NM_001318825.2:c.1271G= NP_001305754.1:p.Arg424=
NR_134869.2:n.1116-294G=
NR_134869.3:n.1116-294G=