Canonical Allele Identifier: CA393063677

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72351196C>T , CM000677.2:g.72351196C>T	GRCh38
NC_000015.9:g.72643537C>T , CM000677.1:g.72643537C>T	GRCh37
NC_000015.8:g.70430591C>T	NCBI36
NG_009017.1:g.29984G>A
NG_009017.2:g.29984G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000520.6:c.609G>A MANE Select	NP_000511.2:p.Trp203Ter
ENST00000268097.10:c.609G>A MANE Select	ENSP00000268097.6:p.Trp203Ter
NM_000520.4:c.609G>A	NP_000511.2:p.Trp203Ter
NM_000520.5:c.609G>A	NP_000511.2:p.Trp203Ter
NM_001318825.1:c.642G>A	NP_001305754.1:p.Trp214Ter
NM_001318825.2:c.642G>A	NP_001305754.1:p.Trp214Ter
NR_134869.1:n.1110G>A
NR_134869.2:n.651G>A
NR_134869.3:n.651G>A
ENST00000268097.9:c.609G>A	ENSP00000268097.5:p.Trp203Ter
ENST00000379915.4:c.412+4363G>A	ENSP00000478716.1:n.412+4363G>A
ENST00000563762.5:c.542G>A	ENSP00000456346.1:n.542G>A
ENST00000563908.2:n.2955G>A
ENST00000566304.5:c.642G>A	ENSP00000455114.1:p.Trp214Ter
ENST00000566672.5:c.*19G>A	ENSP00000457037.1:n.*19G>A
ENST00000567027.5:c.481G>A
ENST00000567027.6:c.609G>A	ENSP00000457521.2:p.Trp203Ter
ENST00000567159.5:c.609G>A	ENSP00000456489.1:p.Trp203Ter
ENST00000567411.5:c.*130G>A	ENSP00000455545.1:n.*130G>A
ENST00000568260.1:c.610G>A
ENST00000568260.2:c.629G>A	ENSP00000458128.2:n.629G>A
ENST00000568777.5:n.6013G>A
ENST00000569410.5:c.609G>A	ENSP00000457125.1:p.Trp203Ter
ENST00000569509.5:n.456G>A
ENST00000682061.1:c.*271G>A	ENSP00000508316.1:n.*271G>A
ENST00000682177.1:c.609G>A	ENSP00000507409.1:p.Trp203Ter
ENST00000682461.1:c.715G>A	ENSP00000507308.1:n.715G>A
ENST00000682653.1:n.640G>A
ENST00000682657.1:c.*19G>A	ENSP00000507753.1:n.*19G>A
ENST00000682721.1:c.*412G>A	ENSP00000507535.1:n.*412G>A
ENST00000682843.1:c.*507G>A	ENSP00000508173.1:n.*507G>A
ENST00000683003.1:c.*19G>A	ENSP00000507576.1:n.*19G>A
ENST00000683133.1:c.793G>A	ENSP00000508108.1:n.793G>A
ENST00000683228.1:n.640G>A
ENST00000683243.1:c.*19G>A	ENSP00000507042.1:n.*19G>A
ENST00000683463.1:c.609G>A	ENSP00000507986.1:p.Trp203Ter
ENST00000683548.1:n.640G>A
ENST00000683579.1:c.*507G>A	ENSP00000506867.1:n.*507G>A
ENST00000683587.1:n.640G>A
ENST00000683681.1:c.609G>A	ENSP00000508110.1:p.Trp203Ter
ENST00000683735.1:c.*507G>A	ENSP00000508336.1:n.*507G>A
ENST00000683742.1:n.440G>A
ENST00000683853.1:c.609G>A	ENSP00000506834.1:p.Trp203Ter
ENST00000683860.1:c.609G>A	ENSP00000507179.1:p.Trp203Ter
ENST00000683884.1:c.609G>A	ENSP00000507004.1:p.Trp203Ter
ENST00000684041.1:c.609G>A	ENSP00000508382.1:p.Trp203Ter
ENST00000684125.1:c.609G>A	ENSP00000507320.1:p.Trp203Ter
ENST00000684203.1:n.2447G>A
ENST00000684231.1:c.*19G>A	ENSP00000507748.1:n.*19G>A
ENST00000684263.1:c.609G>A	ENSP00000508369.1:p.Trp203Ter
ENST00000684305.1:c.1057G>A	ENSP00000506819.1:n.1057G>A
ENST00000684415.1:c.609G>A	ENSP00000507227.1:p.Trp203Ter
ENST00000684520.1:c.609G>A	ENSP00000506826.1:p.Trp203Ter
ENST00000684602.1:c.*275G>A	ENSP00000507996.1:n.*275G>A
ENST00000684667.1:c.940G>A	ENSP00000507003.1:n.940G>A