Canonical Allele Identifier: CA393059284

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346293C>G , CM000677.2:g.72346293C>G	GRCh38
NC_000015.9:g.72638634C>G , CM000677.1:g.72638634C>G	GRCh37
NC_000015.8:g.70425688C>G	NCBI36
NG_009017.1:g.34887G>C
NG_009017.2:g.34887G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000520.6:c.1363G>C MANE Select	NP_000511.2:p.Gly455Arg
ENST00000268097.10:c.1363G>C MANE Select	ENSP00000268097.6:p.Gly455Arg
NM_000520.4:c.1363G>C	NP_000511.2:p.Gly455Arg
NM_000520.5:c.1363G>C	NP_000511.2:p.Gly455Arg
NM_001318825.1:c.1396G>C	NP_001305754.1:p.Gly466Arg
NM_001318825.2:c.1396G>C	NP_001305754.1:p.Gly466Arg
NR_134869.1:n.1607G>C
NR_134869.2:n.1148G>C
NR_134869.3:n.1148G>C
ENST00000268097.9:c.1363G>C	ENSP00000268097.5:p.Gly455Arg
ENST00000379915.4:c.445G>C	ENSP00000478716.1:p.Gly149Arg
ENST00000563762.5:c.858G>C	ENSP00000456346.1:n.858G>C
ENST00000566304.5:c.1396G>C	ENSP00000455114.1:p.Gly466Arg
ENST00000566672.5:c.*773G>C	ENSP00000457037.1:n.*773G>C
ENST00000567027.5:c.978G>C
ENST00000567027.6:c.*23G>C	ENSP00000457521.2:n.*23G>C
ENST00000567159.5:c.1363G>C	ENSP00000456489.1:p.Gly455Arg
ENST00000567411.5:c.*884G>C	ENSP00000455545.1:n.*884G>C
ENST00000568777.5:n.6583G>C
ENST00000569410.5:c.*168G>C	ENSP00000457125.1:n.*168G>C
ENST00000682061.1:c.*1025G>C	ENSP00000508316.1:n.*1025G>C
ENST00000682064.1:n.906G>C
ENST00000682177.1:c.1406G>C	ENSP00000507409.1:n.1406G>C
ENST00000682235.1:n.702G>C
ENST00000682461.1:c.1469G>C	ENSP00000507308.1:n.1469G>C
ENST00000682653.1:n.1683G>C
ENST00000682657.1:c.*516G>C	ENSP00000507753.1:n.*516G>C
ENST00000682721.1:c.*1166G>C	ENSP00000507535.1:n.*1166G>C
ENST00000682843.1:c.*1004G>C	ENSP00000508173.1:n.*1004G>C
ENST00000683003.1:c.*516G>C	ENSP00000507576.1:n.*516G>C
ENST00000683133.1:c.1547G>C	ENSP00000508108.1:n.1547G>C
ENST00000683243.1:c.*516G>C	ENSP00000507042.1:n.*516G>C
ENST00000683463.1:c.*168G>C	ENSP00000507986.1:n.*168G>C
ENST00000683548.1:n.1137G>C
ENST00000683579.1:c.*1261G>C	ENSP00000506867.1:n.*1261G>C
ENST00000683587.1:n.1210G>C
ENST00000683681.1:c.1363G>C	ENSP00000508110.1:p.Gly455Arg
ENST00000683735.1:c.*1077G>C	ENSP00000508336.1:n.*1077G>C
ENST00000683853.1:c.*168G>C	ENSP00000506834.1:n.*168G>C
ENST00000683860.1:c.1363G>C	ENSP00000507179.1:p.Gly455Arg
ENST00000683884.1:c.*6G>C	ENSP00000507004.1:n.*6G>C
ENST00000684041.1:c.1363G>C	ENSP00000508382.1:p.Gly455Arg
ENST00000684125.1:c.*23G>C	ENSP00000507320.1:n.*23G>C
ENST00000684203.1:n.3128G>C
ENST00000684231.1:c.*773G>C	ENSP00000507748.1:n.*773G>C
ENST00000684263.1:c.*303G>C	ENSP00000508369.1:n.*303G>C
ENST00000684305.1:c.1811G>C	ENSP00000506819.1:n.1811G>C
ENST00000684415.1:c.*230G>C	ENSP00000507227.1:n.*230G>C
ENST00000684520.1:c.1363G>C	ENSP00000506826.1:p.Gly455Arg
ENST00000684602.1:c.*1029G>C	ENSP00000507996.1:n.*1029G>C
ENST00000684667.1:c.1694G>C	ENSP00000507003.1:n.1694G>C