Canonical Allele Identifier: CA7645006

Gene: HEXA

Linked Data

• dbSNP Id: rs767677756
• ExAC: 15:72646033 G / A
• gnomAD v2: 15-72646033-G-A
• gnomAD v4: 15-72353692-G-A
• MyVariant Identifiers: chr15:g.72646033G>A (hg19) ; chr15:g.72353692G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72353692G>A , CM000677.2:g.72353692G>A	GRCh38
NC_000015.9:g.72646033G>A , CM000677.1:g.72646033G>A	GRCh37
NC_000015.8:g.70433087G>A	NCBI36
NG_009017.1:g.27488C>T
NG_009017.2:g.27488C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.2292C>T
ENST00000567027.6:c.458C>T	ENSP00000457521.2:p.Thr153Ile
ENST00000568260.2:c.480-514C>T	ENSP00000458128.2:n.480-514C>T
ENST00000682061.1:c.*120C>T	ENSP00000508316.1:n.*120C>T
ENST00000682177.1:c.458C>T	ENSP00000507409.1:p.Thr153Ile
ENST00000682461.1:c.676+1867C>T	ENSP00000507308.1:n.676+1867C>T
ENST00000682653.1:n.489C>T
ENST00000682657.1:c.254-2458C>T	ENSP00000507753.1:n.254-2458C>T
ENST00000682721.1:c.*261C>T	ENSP00000507535.1:n.*261C>T
ENST00000682843.1:c.*356C>T	ENSP00000508173.1:n.*356C>T
ENST00000683003.1:c.412+1867C>T	ENSP00000507576.1:n.412+1867C>T
ENST00000683133.1:c.642C>T	ENSP00000508108.1:n.642C>T
ENST00000683228.1:n.489C>T
ENST00000683243.1:c.412+1867C>T	ENSP00000507042.1:n.412+1867C>T
ENST00000683463.1:c.458C>T	ENSP00000507986.1:p.Thr153Ile
ENST00000683548.1:n.489C>T
ENST00000683579.1:c.*356C>T	ENSP00000506867.1:n.*356C>T
ENST00000683587.1:n.489C>T
ENST00000683681.1:c.458C>T	ENSP00000508110.1:p.Thr153Ile
ENST00000683735.1:c.*356C>T	ENSP00000508336.1:n.*356C>T
ENST00000683853.1:c.458C>T	ENSP00000506834.1:p.Thr153Ile
ENST00000683860.1:c.458C>T	ENSP00000507179.1:p.Thr153Ile
ENST00000683884.1:c.458C>T	ENSP00000507004.1:p.Thr153Ile
ENST00000684041.1:c.458C>T	ENSP00000508382.1:p.Thr153Ile
ENST00000684125.1:c.458C>T	ENSP00000507320.1:p.Thr153Ile
ENST00000684203.1:n.2296C>T
ENST00000684231.1:c.412+1867C>T	ENSP00000507748.1:n.412+1867C>T
ENST00000684263.1:c.458C>T	ENSP00000508369.1:p.Thr153Ile
ENST00000684305.1:c.906C>T	ENSP00000506819.1:n.906C>T
ENST00000684415.1:c.458C>T	ENSP00000507227.1:p.Thr153Ile
ENST00000684520.1:c.458C>T	ENSP00000506826.1:p.Thr153Ile
ENST00000684602.1:c.*236+1867C>T	ENSP00000507996.1:n.*236+1867C>T
ENST00000684667.1:c.789C>T	ENSP00000507003.1:n.789C>T
ENST00000268097.10:c.458C>T MANE Select	ENSP00000268097.6:p.Thr153Ile
ENST00000268097.9:c.458C>T	ENSP00000268097.5:p.Thr153Ile
ENST00000379915.4:c.412+1867C>T	ENSP00000478716.1:n.412+1867C>T
ENST00000563762.5:c.503+1867C>T	ENSP00000456346.1:n.503+1867C>T
ENST00000566304.5:c.491C>T	ENSP00000455114.1:p.Thr164Ile
ENST00000566672.5:c.412+1867C>T	ENSP00000457037.1:n.412+1867C>T
ENST00000567027.5:c.330C>T
ENST00000567159.5:c.458C>T	ENSP00000456489.1:p.Thr153Ile
ENST00000567411.5:c.413-514C>T	ENSP00000455545.1:n.413-514C>T
ENST00000568260.1:c.461-514C>T
ENST00000568777.5:n.5862C>T
ENST00000569410.5:c.458C>T	ENSP00000457125.1:p.Thr153Ile
ENST00000569509.5:n.417+1867C>T
NM_000520.4:c.458C>T	NP_000511.2:p.Thr153Ile
NM_000520.5:c.458C>T	NP_000511.2:p.Thr153Ile
NM_001318825.1:c.491C>T	NP_001305754.1:p.Thr164Ile
NR_134869.1:n.959C>T
NM_000520.6:c.458C>T MANE Select	NP_000511.2:p.Thr153Ile
NM_001318825.2:c.491C>T	NP_001305754.1:p.Thr164Ile
NR_134869.2:n.500C>T
NR_134869.3:n.500C>T