Canonical Allele Identifier: CA2575781322

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72355507C>G , CM000677.2:g.72355507C>G	GRCh38
NC_000015.9:g.72647848C>G , CM000677.1:g.72647848C>G	GRCh37
NC_000015.8:g.70434902C>G	NCBI36
NG_009017.1:g.25673G>C
NG_009017.2:g.25673G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.477G>C
ENST00000567027.6:c.412+52G>C	ENSP00000457521.2:n.412+52G>C
ENST00000568260.2:c.479+52G>C	ENSP00000458128.2:n.479+52G>C
ENST00000682061.1:c.*74+52G>C	ENSP00000508316.1:n.*74+52G>C
ENST00000682177.1:c.412+52G>C	ENSP00000507409.1:n.412+52G>C
ENST00000682461.1:c.676+52G>C	ENSP00000507308.1:n.676+52G>C
ENST00000682653.1:n.443+52G>C
ENST00000682657.1:c.254-4273G>C	ENSP00000507753.1:n.254-4273G>C
ENST00000682721.1:c.*215+52G>C	ENSP00000507535.1:n.*215+52G>C
ENST00000682843.1:c.*310+52G>C	ENSP00000508173.1:n.*310+52G>C
ENST00000683003.1:c.412+52G>C	ENSP00000507576.1:n.412+52G>C
ENST00000683133.1:c.596+52G>C	ENSP00000508108.1:n.596+52G>C
ENST00000683228.1:n.443+52G>C
ENST00000683243.1:c.412+52G>C	ENSP00000507042.1:n.412+52G>C
ENST00000683463.1:c.412+52G>C	ENSP00000507986.1:n.412+52G>C
ENST00000683548.1:n.443+52G>C
ENST00000683579.1:c.*310+52G>C	ENSP00000506867.1:n.*310+52G>C
ENST00000683587.1:n.443+52G>C
ENST00000683681.1:c.412+52G>C	ENSP00000508110.1:n.412+52G>C
ENST00000683735.1:c.*310+52G>C	ENSP00000508336.1:n.*310+52G>C
ENST00000683853.1:c.412+52G>C	ENSP00000506834.1:n.412+52G>C
ENST00000683860.1:c.412+52G>C	ENSP00000507179.1:n.412+52G>C
ENST00000683884.1:c.412+52G>C	ENSP00000507004.1:n.412+52G>C
ENST00000684041.1:c.412+52G>C	ENSP00000508382.1:n.412+52G>C
ENST00000684125.1:c.412+52G>C	ENSP00000507320.1:n.412+52G>C
ENST00000684203.1:n.481G>C
ENST00000684231.1:c.412+52G>C	ENSP00000507748.1:n.412+52G>C
ENST00000684263.1:c.412+52G>C	ENSP00000508369.1:n.412+52G>C
ENST00000684305.1:c.860+52G>C	ENSP00000506819.1:n.860+52G>C
ENST00000684415.1:c.412+52G>C	ENSP00000507227.1:n.412+52G>C
ENST00000684520.1:c.412+52G>C	ENSP00000506826.1:n.412+52G>C
ENST00000684602.1:c.*236+52G>C	ENSP00000507996.1:n.*236+52G>C
ENST00000684667.1:c.743+52G>C	ENSP00000507003.1:n.743+52G>C
ENST00000268097.10:c.412+52G>C MANE Select	ENSP00000268097.6:n.412+52G>C
ENST00000268097.9:c.412+52G>C	ENSP00000268097.5:n.412+52G>C
ENST00000379915.4:c.412+52G>C	ENSP00000478716.1:n.412+52G>C
ENST00000563762.5:c.503+52G>C	ENSP00000456346.1:n.503+52G>C
ENST00000563908.1:n.461G>C
ENST00000566304.5:c.445+52G>C	ENSP00000455114.1:n.445+52G>C
ENST00000566672.5:c.412+52G>C	ENSP00000457037.1:n.412+52G>C
ENST00000567027.5:c.284+52G>C
ENST00000567159.5:c.412+52G>C	ENSP00000456489.1:n.412+52G>C
ENST00000567411.5:c.412+52G>C	ENSP00000455545.1:n.412+52G>C
ENST00000568260.1:c.460+52G>C
ENST00000568777.5:n.4047G>C
ENST00000569410.5:c.412+52G>C	ENSP00000457125.1:n.412+52G>C
ENST00000569509.5:n.417+52G>C
NM_000520.4:c.412+52G>C	NP_000511.2:n.412+52G>C
NM_000520.5:c.412+52G>C	NP_000511.2:n.412+52G>C
NM_001318825.1:c.445+52G>C	NP_001305754.1:n.445+52G>C
NR_134869.1:n.913+52G>C
NM_000520.6:c.412+52G>C MANE Select	NP_000511.2:n.412+52G>C
NM_001318825.2:c.445+52G>C	NP_001305754.1:n.445+52G>C
NR_134869.2:n.454+52G>C
NR_134869.3:n.454+52G>C