Canonical Allele Identifier: CA393059004

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638574A>C (hg19) ; chr15:g.72346233A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346233A>C , CM000677.2:g.72346233A>C	GRCh38
NC_000015.9:g.72638574A>C , CM000677.1:g.72638574A>C	GRCh37
NC_000015.8:g.70425628A>C	NCBI36
NG_009017.1:g.34947T>G
NG_009017.2:g.34947T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*81+2T>G	ENSP00000457521.2:n.*81+2T>G
ENST00000682061.1:c.*1085T>G	ENSP00000508316.1:n.*1085T>G
ENST00000682064.1:n.966T>G
ENST00000682177.1:c.1464+2T>G	ENSP00000507409.1:n.1464+2T>G
ENST00000682235.1:n.762T>G
ENST00000682461.1:c.1527+2T>G	ENSP00000507308.1:n.1527+2T>G
ENST00000682653.1:n.1743T>G
ENST00000682657.1:c.*576T>G	ENSP00000507753.1:n.*576T>G
ENST00000682721.1:c.*1224+2T>G	ENSP00000507535.1:n.*1224+2T>G
ENST00000682843.1:c.*1062+2T>G	ENSP00000508173.1:n.*1062+2T>G
ENST00000683003.1:c.*576T>G	ENSP00000507576.1:n.*576T>G
ENST00000683133.1:c.1605+2T>G	ENSP00000508108.1:n.1605+2T>G
ENST00000683243.1:c.*574+2T>G	ENSP00000507042.1:n.*574+2T>G
ENST00000683463.1:c.*228T>G	ENSP00000507986.1:n.*228T>G
ENST00000683548.1:n.1197T>G
ENST00000683579.1:c.*1319+2T>G	ENSP00000506867.1:n.*1319+2T>G
ENST00000683587.1:n.1270T>G
ENST00000683681.1:c.1421+2T>G	ENSP00000508110.1:n.1421+2T>G
ENST00000683735.1:c.*1137T>G	ENSP00000508336.1:n.*1137T>G
ENST00000683853.1:c.*226+2T>G	ENSP00000506834.1:n.*226+2T>G
ENST00000683860.1:c.1421+2T>G	ENSP00000507179.1:n.1421+2T>G
ENST00000683884.1:c.*66T>G	ENSP00000507004.1:n.*66T>G
ENST00000684041.1:c.1423T>G	ENSP00000508382.1:p.Ter475Glu
ENST00000684125.1:c.*81+2T>G	ENSP00000507320.1:n.*81+2T>G
ENST00000684203.1:n.3188T>G
ENST00000684231.1:c.*831+2T>G	ENSP00000507748.1:n.*831+2T>G
ENST00000684263.1:c.*363T>G	ENSP00000508369.1:n.*363T>G
ENST00000684305.1:c.1869+2T>G	ENSP00000506819.1:n.1869+2T>G
ENST00000684415.1:c.*290T>G	ENSP00000507227.1:n.*290T>G
ENST00000684520.1:c.1423T>G	ENSP00000506826.1:p.Ter475Glu
ENST00000684602.1:c.*1087+2T>G	ENSP00000507996.1:n.*1087+2T>G
ENST00000684667.1:c.1752+2T>G	ENSP00000507003.1:n.1752+2T>G
ENST00000268097.10:c.1421+2T>G MANE Select	ENSP00000268097.6:n.1421+2T>G
ENST00000268097.9:c.1421+2T>G	ENSP00000268097.5:n.1421+2T>G
ENST00000379915.4:c.503+2T>G	ENSP00000478716.1:n.503+2T>G
ENST00000563762.5:c.918T>G	ENSP00000456346.1:n.918T>G
ENST00000566304.5:c.1454+2T>G	ENSP00000455114.1:n.1454+2T>G
ENST00000566672.5:c.*833T>G	ENSP00000457037.1:n.*833T>G
ENST00000567027.5:c.1036+2T>G
ENST00000567159.5:c.1421+2T>G	ENSP00000456489.1:n.1421+2T>G
ENST00000567411.5:c.*942+2T>G	ENSP00000455545.1:n.*942+2T>G
ENST00000568777.5:n.6641+2T>G
NM_000520.4:c.1421+2T>G	NP_000511.2:n.1421+2T>G
NM_000520.5:c.1421+2T>G	NP_000511.2:n.1421+2T>G
NM_001318825.1:c.1454+2T>G	NP_001305754.1:n.1454+2T>G
NR_134869.1:n.1665+2T>G
NM_000520.6:c.1421+2T>G MANE Select	NP_000511.2:n.1421+2T>G
NM_001318825.2:c.1454+2T>G	NP_001305754.1:n.1454+2T>G
NR_134869.2:n.1206+2T>G
NR_134869.3:n.1206+2T>G