Canonical Allele Identifier: CA2186743414

Gene: HEXA

Linked Data

• dbSNP Id: rs2088606103

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345878dup , CM000677.2:g.72345878dup	GRCh38
NC_000015.9:g.72638219dup , CM000677.1:g.72638219dup	GRCh37
NC_000015.8:g.70425273dup	NCBI36
NG_009017.1:g.35303dup
NG_009017.2:g.35303dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-327dup	ENSP00000457521.2:n.*82-327dup
ENST00000682061.1:c.*1441dup	ENSP00000508316.1:n.*1441dup
ENST00000682064.1:n.1322dup
ENST00000682177.1:c.1465-327dup	ENSP00000507409.1:n.1465-327dup
ENST00000682235.1:n.1118dup
ENST00000682461.1:c.1528-327dup	ENSP00000507308.1:n.1528-327dup
ENST00000682653.1:n.2099dup
ENST00000682657.1:c.*932dup	ENSP00000507753.1:n.*932dup
ENST00000682721.1:c.*1225-327dup	ENSP00000507535.1:n.*1225-327dup
ENST00000682843.1:c.*1063-327dup	ENSP00000508173.1:n.*1063-327dup
ENST00000683003.1:c.*932dup	ENSP00000507576.1:n.*932dup
ENST00000683133.1:c.1606-327dup	ENSP00000508108.1:n.1606-327dup
ENST00000683243.1:c.*575-327dup	ENSP00000507042.1:n.*575-327dup
ENST00000683463.1:c.*584dup	ENSP00000507986.1:n.*584dup
ENST00000683548.1:n.1553dup
ENST00000683579.1:c.*1320-327dup	ENSP00000506867.1:n.*1320-327dup
ENST00000683587.1:n.1626dup
ENST00000683681.1:c.1422-101dup	ENSP00000508110.1:n.1422-101dup
ENST00000683735.1:c.*1493dup	ENSP00000508336.1:n.*1493dup
ENST00000683853.1:c.*227-327dup	ENSP00000506834.1:n.*227-327dup
ENST00000683860.1:c.*215dup	ENSP00000507179.1:n.*215dup
ENST00000683884.1:c.*422dup	ENSP00000507004.1:n.*422dup
ENST00000684041.1:c.*354dup	ENSP00000508382.1:n.*354dup
ENST00000684125.1:c.*82-327dup	ENSP00000507320.1:n.*82-327dup
ENST00000684203.1:n.3544dup
ENST00000684231.1:c.*832-327dup	ENSP00000507748.1:n.*832-327dup
ENST00000684263.1:c.*719dup	ENSP00000508369.1:n.*719dup
ENST00000684305.1:c.1870-327dup	ENSP00000506819.1:n.1870-327dup
ENST00000684415.1:c.*646dup	ENSP00000507227.1:n.*646dup
ENST00000684520.1:c.*354dup	ENSP00000506826.1:n.*354dup
ENST00000684602.1:c.*1088-327dup	ENSP00000507996.1:n.*1088-327dup
ENST00000684667.1:c.1753-327dup	ENSP00000507003.1:n.1753-327dup
ENST00000268097.10:c.1422-327dup MANE Select	ENSP00000268097.6:n.1422-327dup
ENST00000268097.9:c.1422-327dup	ENSP00000268097.5:n.1422-327dup
ENST00000379915.4:c.504-327dup	ENSP00000478716.1:n.504-327dup
ENST00000564677.5:n.13dup
ENST00000565873.1:n.6dup
ENST00000566304.5:c.1455-327dup	ENSP00000455114.1:n.1455-327dup
ENST00000567027.5:c.1037-327dup
ENST00000567159.5:c.1422-327dup	ENSP00000456489.1:n.1422-327dup
ENST00000567411.5:c.*943-327dup	ENSP00000455545.1:n.*943-327dup
ENST00000568777.5:n.6642-327dup
NM_000520.4:c.1422-327dup	NP_000511.2:n.1422-327dup
NM_000520.5:c.1422-327dup	NP_000511.2:n.1422-327dup
NM_001318825.1:c.1455-327dup	NP_001305754.1:n.1455-327dup
NR_134869.1:n.1666-327dup
NM_000520.6:c.1422-327dup MANE Select	NP_000511.2:n.1422-327dup
NM_001318825.2:c.1455-327dup	NP_001305754.1:n.1455-327dup
NR_134869.2:n.1207-327dup
NR_134869.3:n.1207-327dup