Canonical Allele Identifier: CA393058727

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2154726
• ClinVar RCV Id: RCV003081928
• dbSNP Id: rs2088600309
• gnomAD v3: 15-72345503-G-A
• gnomAD v4: 15-72345503-G-A
• MyVariant Identifiers: chr15:g.72637844G>A (hg19) ; chr15:g.72345503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345503G>A , CM000677.2:g.72345503G>A	GRCh38
NC_000015.9:g.72637844G>A , CM000677.1:g.72637844G>A	GRCh37
NC_000015.8:g.70424898G>A	NCBI36
NG_009017.1:g.35677C>T
NG_009017.2:g.35677C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*129C>T	ENSP00000457521.2:n.*129C>T
ENST00000682061.1:c.*1815C>T	ENSP00000508316.1:n.*1815C>T
ENST00000682064.1:n.1696C>T
ENST00000682177.1:c.1512C>T	ENSP00000507409.1:n.1512C>T
ENST00000682235.1:n.1492C>T
ENST00000682461.1:c.1575C>T	ENSP00000507308.1:n.1575C>T
ENST00000682653.1:n.2473C>T
ENST00000682657.1:c.*1306C>T	ENSP00000507753.1:n.*1306C>T
ENST00000682721.1:c.*1272C>T	ENSP00000507535.1:n.*1272C>T
ENST00000682843.1:c.*1110C>T	ENSP00000508173.1:n.*1110C>T
ENST00000683003.1:c.*1306C>T	ENSP00000507576.1:n.*1306C>T
ENST00000683133.1:c.1653C>T	ENSP00000508108.1:n.1653C>T
ENST00000683243.1:c.*622C>T	ENSP00000507042.1:n.*622C>T
ENST00000683463.1:c.*958C>T	ENSP00000507986.1:n.*958C>T
ENST00000683548.1:n.1927C>T
ENST00000683579.1:c.*1367C>T	ENSP00000506867.1:n.*1367C>T
ENST00000683587.1:n.2000C>T
ENST00000683681.1:c.*147C>T	ENSP00000508110.1:n.*147C>T
ENST00000683735.1:c.*1867C>T	ENSP00000508336.1:n.*1867C>T
ENST00000683853.1:c.*274C>T	ENSP00000506834.1:n.*274C>T
ENST00000683860.1:c.*589C>T	ENSP00000507179.1:n.*589C>T
ENST00000683884.1:c.*796C>T	ENSP00000507004.1:n.*796C>T
ENST00000684041.1:c.*602C>T	ENSP00000508382.1:n.*602C>T
ENST00000684125.1:c.*129C>T	ENSP00000507320.1:n.*129C>T
ENST00000684203.1:n.3918C>T
ENST00000684231.1:c.*879C>T	ENSP00000507748.1:n.*879C>T
ENST00000684263.1:c.*1093C>T	ENSP00000508369.1:n.*1093C>T
ENST00000684305.1:c.1917C>T	ENSP00000506819.1:n.1917C>T
ENST00000684415.1:c.*1020C>T	ENSP00000507227.1:n.*1020C>T
ENST00000684520.1:c.*728C>T	ENSP00000506826.1:n.*728C>T
ENST00000684602.1:c.*1135C>T	ENSP00000507996.1:n.*1135C>T
ENST00000684667.1:c.1800C>T	ENSP00000507003.1:n.1800C>T
ENST00000268097.10:c.1469C>T MANE Select	ENSP00000268097.6:p.Thr490Ile
ENST00000268097.9:c.1469C>T	ENSP00000268097.5:p.Thr490Ile
ENST00000379915.4:c.551C>T	ENSP00000478716.1:p.Thr184Ile
ENST00000564677.5:n.261C>T
ENST00000565873.1:n.380C>T
ENST00000566304.5:c.1502C>T	ENSP00000455114.1:p.Thr501Ile
ENST00000567027.5:c.1084C>T
ENST00000567159.5:c.1469C>T	ENSP00000456489.1:p.Thr490Ile
ENST00000567411.5:c.*990C>T	ENSP00000455545.1:n.*990C>T
ENST00000568777.5:n.6689C>T
ENST00000569116.1:n.176C>T
NM_000520.4:c.1469C>T	NP_000511.2:p.Thr490Ile
NM_000520.5:c.1469C>T	NP_000511.2:p.Thr490Ile
NM_001318825.1:c.1502C>T	NP_001305754.1:p.Thr501Ile
NR_134869.1:n.1713C>T
NM_000520.6:c.1469C>T MANE Select	NP_000511.2:p.Thr490Ile
NM_001318825.2:c.1502C>T	NP_001305754.1:p.Thr501Ile
NR_134869.2:n.1254C>T
NR_134869.3:n.1254C>T