Canonical Allele Identifier: CA2186743714
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346637A= , CM000677.2:g.72346637A= GRCh38
NC_000015.9:g.72638978A= , CM000677.1:g.72638978A= GRCh37
NC_000015.8:g.70426032A= NCBI36
NG_009017.1:g.34543T=
NG_009017.2:g.34543T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-312T= ENSP00000457521.2:n.1074-312T=
ENST00000682061.1:c.*882T= ENSP00000508316.1:n.*882T=
ENST00000682064.1:n.562T=
ENST00000682177.1:c.1263T= ENSP00000507409.1:n.1263T=
ENST00000682235.1:n.559T=
ENST00000682461.1:c.1326T= ENSP00000507308.1:n.1326T=
ENST00000682653.1:n.1540T=
ENST00000682657.1:c.*484-312T= ENSP00000507753.1:n.*484-312T=
ENST00000682721.1:c.*1023T= ENSP00000507535.1:n.*1023T=
ENST00000682843.1:c.*972-312T= ENSP00000508173.1:n.*972-312T=
ENST00000683003.1:c.*484-312T= ENSP00000507576.1:n.*484-312T=
ENST00000683133.1:c.1404T= ENSP00000508108.1:n.1404T=
ENST00000683243.1:c.*484-312T= ENSP00000507042.1:n.*484-312T=
ENST00000683463.1:c.*25T= ENSP00000507986.1:n.*25T=
ENST00000683548.1:n.1105-312T=
ENST00000683579.1:c.*1118T= ENSP00000506867.1:n.*1118T=
ENST00000683587.1:n.1178-312T=
ENST00000683681.1:c.1220T= ENSP00000508110.1:p.Val407=
ENST00000683735.1:c.*1045-312T= ENSP00000508336.1:n.*1045-312T=
ENST00000683853.1:c.*25T= ENSP00000506834.1:n.*25T=
ENST00000683860.1:c.1220T= ENSP00000507179.1:p.Val407=
ENST00000683884.1:c.1147-312T= ENSP00000507004.1:n.1147-312T=
ENST00000684041.1:c.1220T= ENSP00000508382.1:p.Val407=
ENST00000684125.1:c.1074-312T= ENSP00000507320.1:n.1074-312T=
ENST00000684203.1:n.2985T=
ENST00000684231.1:c.*630T= ENSP00000507748.1:n.*630T=
ENST00000684263.1:c.*160T= ENSP00000508369.1:n.*160T=
ENST00000684305.1:c.1668T= ENSP00000506819.1:n.1668T=
ENST00000684415.1:c.*87T= ENSP00000507227.1:n.*87T=
ENST00000684520.1:c.1220T= ENSP00000506826.1:p.Val407=
ENST00000684602.1:c.*886T= ENSP00000507996.1:n.*886T=
ENST00000684667.1:c.1551T= ENSP00000507003.1:n.1551T=
ENST00000268097.10:c.1220T= MANE Select ENSP00000268097.6:p.Val407=
ENST00000268097.9:c.1220T= ENSP00000268097.5:p.Val407=
ENST00000379915.4:c.413-312T= ENSP00000478716.1:n.413-312T=
ENST00000563762.5:c.826-312T= ENSP00000456346.1:n.826-312T=
ENST00000566304.5:c.1253T= ENSP00000455114.1:p.Val418=
ENST00000566672.5:c.*630T= ENSP00000457037.1:n.*630T=
ENST00000567027.5:c.946-312T=
ENST00000567159.5:c.1220T= ENSP00000456489.1:p.Val407=
ENST00000567411.5:c.*741T= ENSP00000455545.1:n.*741T=
ENST00000568777.5:n.6551-312T=
ENST00000569410.5:c.*25T= ENSP00000457125.1:n.*25T=
NM_000520.4:c.1220T= NP_000511.2:p.Val407=
NM_000520.5:c.1220T= NP_000511.2:p.Val407=
NM_001318825.1:c.1253T= NP_001305754.1:p.Val418=
NR_134869.1:n.1575-312T=
NM_000520.6:c.1220T= MANE Select NP_000511.2:p.Val407=
NM_001318825.2:c.1253T= NP_001305754.1:p.Val418=
NR_134869.2:n.1116-312T=
NR_134869.3:n.1116-312T=