Canonical Allele Identifier: CA2499223082

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1131210
• ClinVar RCV Id: RCV001465036
• dbSNP Id: rs2140328149

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72355549A>G , CM000677.2:g.72355549A>G	GRCh38
NC_000015.9:g.72647890A>G , CM000677.1:g.72647890A>G	GRCh37
NC_000015.8:g.70434944A>G	NCBI36
NG_009017.1:g.25631T>C
NG_009017.2:g.25631T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.435T>C
ENST00000567027.6:c.412+10T>C	ENSP00000457521.2:n.412+10T>C
ENST00000568260.2:c.479+10T>C	ENSP00000458128.2:n.479+10T>C
ENST00000682061.1:c.*74+10T>C	ENSP00000508316.1:n.*74+10T>C
ENST00000682177.1:c.412+10T>C	ENSP00000507409.1:n.412+10T>C
ENST00000682461.1:c.676+10T>C	ENSP00000507308.1:n.676+10T>C
ENST00000682653.1:n.443+10T>C
ENST00000682657.1:c.254-4315T>C	ENSP00000507753.1:n.254-4315T>C
ENST00000682721.1:c.*215+10T>C	ENSP00000507535.1:n.*215+10T>C
ENST00000682843.1:c.*310+10T>C	ENSP00000508173.1:n.*310+10T>C
ENST00000683003.1:c.412+10T>C	ENSP00000507576.1:n.412+10T>C
ENST00000683133.1:c.596+10T>C	ENSP00000508108.1:n.596+10T>C
ENST00000683228.1:n.443+10T>C
ENST00000683243.1:c.412+10T>C	ENSP00000507042.1:n.412+10T>C
ENST00000683463.1:c.412+10T>C	ENSP00000507986.1:n.412+10T>C
ENST00000683548.1:n.443+10T>C
ENST00000683579.1:c.*310+10T>C	ENSP00000506867.1:n.*310+10T>C
ENST00000683587.1:n.443+10T>C
ENST00000683681.1:c.412+10T>C	ENSP00000508110.1:n.412+10T>C
ENST00000683735.1:c.*310+10T>C	ENSP00000508336.1:n.*310+10T>C
ENST00000683853.1:c.412+10T>C	ENSP00000506834.1:n.412+10T>C
ENST00000683860.1:c.412+10T>C	ENSP00000507179.1:n.412+10T>C
ENST00000683884.1:c.412+10T>C	ENSP00000507004.1:n.412+10T>C
ENST00000684041.1:c.412+10T>C	ENSP00000508382.1:n.412+10T>C
ENST00000684125.1:c.412+10T>C	ENSP00000507320.1:n.412+10T>C
ENST00000684203.1:n.439T>C
ENST00000684231.1:c.412+10T>C	ENSP00000507748.1:n.412+10T>C
ENST00000684263.1:c.412+10T>C	ENSP00000508369.1:n.412+10T>C
ENST00000684305.1:c.860+10T>C	ENSP00000506819.1:n.860+10T>C
ENST00000684415.1:c.412+10T>C	ENSP00000507227.1:n.412+10T>C
ENST00000684520.1:c.412+10T>C	ENSP00000506826.1:n.412+10T>C
ENST00000684602.1:c.*236+10T>C	ENSP00000507996.1:n.*236+10T>C
ENST00000684667.1:c.743+10T>C	ENSP00000507003.1:n.743+10T>C
ENST00000268097.10:c.412+10T>C MANE Select	ENSP00000268097.6:n.412+10T>C
ENST00000268097.9:c.412+10T>C	ENSP00000268097.5:n.412+10T>C
ENST00000379915.4:c.412+10T>C	ENSP00000478716.1:n.412+10T>C
ENST00000563762.5:c.503+10T>C	ENSP00000456346.1:n.503+10T>C
ENST00000563908.1:n.419T>C
ENST00000566304.5:c.445+10T>C	ENSP00000455114.1:n.445+10T>C
ENST00000566672.5:c.412+10T>C	ENSP00000457037.1:n.412+10T>C
ENST00000567027.5:c.284+10T>C
ENST00000567159.5:c.412+10T>C	ENSP00000456489.1:n.412+10T>C
ENST00000567411.5:c.412+10T>C	ENSP00000455545.1:n.412+10T>C
ENST00000568260.1:c.460+10T>C
ENST00000568777.5:n.4005T>C
ENST00000569410.5:c.412+10T>C	ENSP00000457125.1:n.412+10T>C
ENST00000569509.5:n.417+10T>C
NM_000520.4:c.412+10T>C	NP_000511.2:n.412+10T>C
NM_000520.5:c.412+10T>C	NP_000511.2:n.412+10T>C
NM_001318825.1:c.445+10T>C	NP_001305754.1:n.445+10T>C
NR_134869.1:n.913+10T>C
NM_000520.6:c.412+10T>C MANE Select	NP_000511.2:n.412+10T>C
NM_001318825.2:c.445+10T>C	NP_001305754.1:n.445+10T>C
NR_134869.2:n.454+10T>C
NR_134869.3:n.454+10T>C