Canonical Allele Identifier: CA2186743420

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345905A= , CM000677.2:g.72345905A=	GRCh38
NC_000015.9:g.72638246A= , CM000677.1:g.72638246A=	GRCh37
NC_000015.8:g.70425300A=	NCBI36
NG_009017.1:g.35275T=
NG_009017.2:g.35275T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*81+330T=	ENSP00000457521.2:n.*81+330T=
ENST00000682061.1:c.*1413T=	ENSP00000508316.1:n.*1413T=
ENST00000682064.1:n.1294T=
ENST00000682177.1:c.1464+330T=	ENSP00000507409.1:n.1464+330T=
ENST00000682235.1:n.1090T=
ENST00000682461.1:c.1527+330T=	ENSP00000507308.1:n.1527+330T=
ENST00000682653.1:n.2071T=
ENST00000682657.1:c.*904T=	ENSP00000507753.1:n.*904T=
ENST00000682721.1:c.*1224+330T=	ENSP00000507535.1:n.*1224+330T=
ENST00000682843.1:c.*1062+330T=	ENSP00000508173.1:n.*1062+330T=
ENST00000683003.1:c.*904T=	ENSP00000507576.1:n.*904T=
ENST00000683133.1:c.1605+330T=	ENSP00000508108.1:n.1605+330T=
ENST00000683243.1:c.*574+330T=	ENSP00000507042.1:n.*574+330T=
ENST00000683463.1:c.*556T=	ENSP00000507986.1:n.*556T=
ENST00000683548.1:n.1525T=
ENST00000683579.1:c.*1319+330T=	ENSP00000506867.1:n.*1319+330T=
ENST00000683587.1:n.1598T=
ENST00000683681.1:c.1422-129T=	ENSP00000508110.1:n.1422-129T=
ENST00000683735.1:c.*1465T=	ENSP00000508336.1:n.*1465T=
ENST00000683853.1:c.*226+330T=	ENSP00000506834.1:n.*226+330T=
ENST00000683860.1:c.*187T=	ENSP00000507179.1:n.*187T=
ENST00000683884.1:c.*394T=	ENSP00000507004.1:n.*394T=
ENST00000684041.1:c.*326T=	ENSP00000508382.1:n.*326T=
ENST00000684125.1:c.*81+330T=	ENSP00000507320.1:n.*81+330T=
ENST00000684203.1:n.3516T=
ENST00000684231.1:c.*831+330T=	ENSP00000507748.1:n.*831+330T=
ENST00000684263.1:c.*691T=	ENSP00000508369.1:n.*691T=
ENST00000684305.1:c.1869+330T=	ENSP00000506819.1:n.1869+330T=
ENST00000684415.1:c.*618T=	ENSP00000507227.1:n.*618T=
ENST00000684520.1:c.*326T=	ENSP00000506826.1:n.*326T=
ENST00000684602.1:c.*1087+330T=	ENSP00000507996.1:n.*1087+330T=
ENST00000684667.1:c.1752+330T=	ENSP00000507003.1:n.1752+330T=
ENST00000268097.10:c.1421+330T= MANE Select	ENSP00000268097.6:n.1421+330T=
ENST00000268097.9:c.1421+330T=	ENSP00000268097.5:n.1421+330T=
ENST00000379915.4:c.503+330T=	ENSP00000478716.1:n.503+330T=
ENST00000566304.5:c.1454+330T=	ENSP00000455114.1:n.1454+330T=
ENST00000567027.5:c.1036+330T=
ENST00000567159.5:c.1421+330T=	ENSP00000456489.1:n.1421+330T=
ENST00000567411.5:c.*942+330T=	ENSP00000455545.1:n.*942+330T=
ENST00000568777.5:n.6641+330T=
NM_000520.4:c.1421+330T=	NP_000511.2:n.1421+330T=
NM_000520.5:c.1421+330T=	NP_000511.2:n.1421+330T=
NM_001318825.1:c.1454+330T=	NP_001305754.1:n.1454+330T=
NR_134869.1:n.1665+330T=
NM_000520.6:c.1421+330T= MANE Select	NP_000511.2:n.1421+330T=
NM_001318825.2:c.1454+330T=	NP_001305754.1:n.1454+330T=
NR_134869.2:n.1206+330T=
NR_134869.3:n.1206+330T=