Canonical Allele Identifier: CA16044206

Gene: HEXA

Linked Data

• ClinVar Variation Id: 375355
• ClinVar RCV Id: RCV000416415
• dbSNP Id: rs1057519461
• MyVariant Identifiers: chr15:g.72643509A>G (hg19) ; chr15:g.72351168A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72351168A>G , CM000677.2:g.72351168A>G	GRCh38
NC_000015.9:g.72643509A>G , CM000677.1:g.72643509A>G	GRCh37
NC_000015.8:g.70430563A>G	NCBI36
NG_009017.1:g.30012T>C
NG_009017.2:g.30012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.2983T>C
ENST00000567027.6:c.637T>C	ENSP00000457521.2:p.Tyr213His
ENST00000568260.2:c.657T>C	ENSP00000458128.2:n.657T>C
ENST00000682061.1:c.*299T>C	ENSP00000508316.1:n.*299T>C
ENST00000682177.1:c.637T>C	ENSP00000507409.1:p.Tyr213His
ENST00000682461.1:c.743T>C	ENSP00000507308.1:n.743T>C
ENST00000682653.1:n.668T>C
ENST00000682657.1:c.*47T>C	ENSP00000507753.1:n.*47T>C
ENST00000682721.1:c.*440T>C	ENSP00000507535.1:n.*440T>C
ENST00000682843.1:c.*535T>C	ENSP00000508173.1:n.*535T>C
ENST00000683003.1:c.*47T>C	ENSP00000507576.1:n.*47T>C
ENST00000683133.1:c.821T>C	ENSP00000508108.1:n.821T>C
ENST00000683228.1:n.668T>C
ENST00000683243.1:c.*47T>C	ENSP00000507042.1:n.*47T>C
ENST00000683463.1:c.637T>C	ENSP00000507986.1:p.Tyr213His
ENST00000683548.1:n.668T>C
ENST00000683579.1:c.*535T>C	ENSP00000506867.1:n.*535T>C
ENST00000683587.1:n.668T>C
ENST00000683681.1:c.637T>C	ENSP00000508110.1:p.Tyr213His
ENST00000683735.1:c.*535T>C	ENSP00000508336.1:n.*535T>C
ENST00000683742.1:n.468T>C
ENST00000683853.1:c.637T>C	ENSP00000506834.1:p.Tyr213His
ENST00000683860.1:c.637T>C	ENSP00000507179.1:p.Tyr213His
ENST00000683884.1:c.637T>C	ENSP00000507004.1:p.Tyr213His
ENST00000684041.1:c.637T>C	ENSP00000508382.1:p.Tyr213His
ENST00000684125.1:c.637T>C	ENSP00000507320.1:p.Tyr213His
ENST00000684203.1:n.2475T>C
ENST00000684231.1:c.*47T>C	ENSP00000507748.1:n.*47T>C
ENST00000684263.1:c.637T>C	ENSP00000508369.1:p.Tyr213His
ENST00000684305.1:c.1085T>C	ENSP00000506819.1:n.1085T>C
ENST00000684415.1:c.637T>C	ENSP00000507227.1:p.Tyr213His
ENST00000684520.1:c.637T>C	ENSP00000506826.1:p.Tyr213His
ENST00000684602.1:c.*303T>C	ENSP00000507996.1:n.*303T>C
ENST00000684667.1:c.968T>C	ENSP00000507003.1:n.968T>C
ENST00000268097.10:c.637T>C MANE Select	ENSP00000268097.6:p.Tyr213His
ENST00000268097.9:c.637T>C	ENSP00000268097.5:p.Tyr213His
ENST00000379915.4:c.412+4391T>C	ENSP00000478716.1:n.412+4391T>C
ENST00000563762.5:c.570T>C	ENSP00000456346.1:n.570T>C
ENST00000566304.5:c.670T>C	ENSP00000455114.1:p.Tyr224His
ENST00000566672.5:c.*47T>C	ENSP00000457037.1:n.*47T>C
ENST00000567027.5:c.509T>C
ENST00000567159.5:c.637T>C	ENSP00000456489.1:p.Tyr213His
ENST00000567411.5:c.*158T>C	ENSP00000455545.1:n.*158T>C
ENST00000568260.1:c.638T>C
ENST00000568777.5:n.6041T>C
ENST00000569410.5:c.637T>C	ENSP00000457125.1:p.Tyr213His
ENST00000569509.5:n.484T>C
NM_000520.4:c.637T>C	NP_000511.2:p.Tyr213His
NM_000520.5:c.637T>C	NP_000511.2:p.Tyr213His
NM_001318825.1:c.670T>C	NP_001305754.1:p.Tyr224His
NR_134869.1:n.1138T>C
NM_000520.6:c.637T>C MANE Select	NP_000511.2:p.Tyr213His
NM_001318825.2:c.670T>C	NP_001305754.1:p.Tyr224His
NR_134869.2:n.679T>C
NR_134869.3:n.679T>C