Canonical Allele Identifier: CA393060459

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1382790
• ClinVar RCV Id: RCV001890551
• dbSNP Id: rs1800431
• MyVariant Identifiers: chr15:g.72638892T>A (hg19) ; chr15:g.72346551T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346551T>A , CM000677.2:g.72346551T>A	GRCh38
NC_000015.9:g.72638892T>A , CM000677.1:g.72638892T>A	GRCh37
NC_000015.8:g.70425946T>A	NCBI36
NG_009017.1:g.34629A>T
NG_009017.2:g.34629A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1074-226A>T	ENSP00000457521.2:n.1074-226A>T
ENST00000682061.1:c.*968A>T	ENSP00000508316.1:n.*968A>T
ENST00000682064.1:n.648A>T
ENST00000682177.1:c.1349A>T	ENSP00000507409.1:n.1349A>T
ENST00000682235.1:n.645A>T
ENST00000682461.1:c.1412A>T	ENSP00000507308.1:n.1412A>T
ENST00000682653.1:n.1626A>T
ENST00000682657.1:c.*484-226A>T	ENSP00000507753.1:n.*484-226A>T
ENST00000682721.1:c.*1109A>T	ENSP00000507535.1:n.*1109A>T
ENST00000682843.1:c.*972-226A>T	ENSP00000508173.1:n.*972-226A>T
ENST00000683003.1:c.*484-226A>T	ENSP00000507576.1:n.*484-226A>T
ENST00000683133.1:c.1490A>T	ENSP00000508108.1:n.1490A>T
ENST00000683243.1:c.*484-226A>T	ENSP00000507042.1:n.*484-226A>T
ENST00000683463.1:c.*111A>T	ENSP00000507986.1:n.*111A>T
ENST00000683548.1:n.1105-226A>T
ENST00000683579.1:c.*1204A>T	ENSP00000506867.1:n.*1204A>T
ENST00000683587.1:n.1178-226A>T
ENST00000683681.1:c.1306A>T	ENSP00000508110.1:p.Ile436Leu
ENST00000683735.1:c.*1045-226A>T	ENSP00000508336.1:n.*1045-226A>T
ENST00000683853.1:c.*111A>T	ENSP00000506834.1:n.*111A>T
ENST00000683860.1:c.1306A>T	ENSP00000507179.1:p.Ile436Leu
ENST00000683884.1:c.1147-226A>T	ENSP00000507004.1:n.1147-226A>T
ENST00000684041.1:c.1306A>T	ENSP00000508382.1:p.Ile436Leu
ENST00000684125.1:c.1074-226A>T	ENSP00000507320.1:n.1074-226A>T
ENST00000684203.1:n.3071A>T
ENST00000684231.1:c.*716A>T	ENSP00000507748.1:n.*716A>T
ENST00000684263.1:c.*246A>T	ENSP00000508369.1:n.*246A>T
ENST00000684305.1:c.1754A>T	ENSP00000506819.1:n.1754A>T
ENST00000684415.1:c.*173A>T	ENSP00000507227.1:n.*173A>T
ENST00000684520.1:c.1306A>T	ENSP00000506826.1:p.Ile436Leu
ENST00000684602.1:c.*972A>T	ENSP00000507996.1:n.*972A>T
ENST00000684667.1:c.1637A>T	ENSP00000507003.1:n.1637A>T
ENST00000268097.10:c.1306A>T MANE Select	ENSP00000268097.6:p.Ile436Leu
ENST00000268097.9:c.1306A>T	ENSP00000268097.5:p.Ile436Leu
ENST00000379915.4:c.413-226A>T	ENSP00000478716.1:n.413-226A>T
ENST00000563762.5:c.826-226A>T	ENSP00000456346.1:n.826-226A>T
ENST00000566304.5:c.1339A>T	ENSP00000455114.1:p.Ile447Leu
ENST00000566672.5:c.*716A>T	ENSP00000457037.1:n.*716A>T
ENST00000567027.5:c.946-226A>T
ENST00000567159.5:c.1306A>T	ENSP00000456489.1:p.Ile436Leu
ENST00000567411.5:c.*827A>T	ENSP00000455545.1:n.*827A>T
ENST00000568777.5:n.6551-226A>T
ENST00000569410.5:c.*111A>T	ENSP00000457125.1:n.*111A>T
NM_000520.4:c.1306A>T	NP_000511.2:p.Ile436Leu
NM_000520.5:c.1306A>T	NP_000511.2:p.Ile436Leu
NM_001318825.1:c.1339A>T	NP_001305754.1:p.Ile447Leu
NR_134869.1:n.1575-226A>T
NM_000520.6:c.1306A>T MANE Select	NP_000511.2:p.Ile436Leu
NM_001318825.2:c.1339A>T	NP_001305754.1:p.Ile447Leu
NR_134869.2:n.1116-226A>T
NR_134869.3:n.1116-226A>T