Canonical Allele Identifier: CA393058515

Gene: HEXA

Linked Data

• dbSNP Id: rs28942071
• MyVariant Identifiers: chr15:g.72637803G>T (hg19) ; chr15:g.72345462G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345462G>T , CM000677.2:g.72345462G>T	GRCh38
NC_000015.9:g.72637803G>T , CM000677.1:g.72637803G>T	GRCh37
NC_000015.8:g.70424857G>T	NCBI36
NG_009017.1:g.35718C>A
NG_009017.2:g.35718C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*170C>A	ENSP00000457521.2:n.*170C>A
ENST00000682061.1:c.*1856C>A	ENSP00000508316.1:n.*1856C>A
ENST00000682064.1:n.1737C>A
ENST00000682177.1:c.1553C>A	ENSP00000507409.1:n.1553C>A
ENST00000682235.1:n.1533C>A
ENST00000682461.1:c.1616C>A	ENSP00000507308.1:n.1616C>A
ENST00000682653.1:n.2514C>A
ENST00000682657.1:c.*1347C>A	ENSP00000507753.1:n.*1347C>A
ENST00000682721.1:c.*1313C>A	ENSP00000507535.1:n.*1313C>A
ENST00000682843.1:c.*1151C>A	ENSP00000508173.1:n.*1151C>A
ENST00000683003.1:c.*1347C>A	ENSP00000507576.1:n.*1347C>A
ENST00000683133.1:c.1694C>A	ENSP00000508108.1:n.1694C>A
ENST00000683243.1:c.*663C>A	ENSP00000507042.1:n.*663C>A
ENST00000683463.1:c.*999C>A	ENSP00000507986.1:n.*999C>A
ENST00000683548.1:n.1968C>A
ENST00000683579.1:c.*1408C>A	ENSP00000506867.1:n.*1408C>A
ENST00000683587.1:n.2041C>A
ENST00000683681.1:c.*188C>A	ENSP00000508110.1:n.*188C>A
ENST00000683735.1:c.*1908C>A	ENSP00000508336.1:n.*1908C>A
ENST00000683853.1:c.*315C>A	ENSP00000506834.1:n.*315C>A
ENST00000683860.1:c.*630C>A	ENSP00000507179.1:n.*630C>A
ENST00000683884.1:c.*837C>A	ENSP00000507004.1:n.*837C>A
ENST00000684125.1:c.*170C>A	ENSP00000507320.1:n.*170C>A
ENST00000684203.1:n.3959C>A
ENST00000684231.1:c.*920C>A	ENSP00000507748.1:n.*920C>A
ENST00000684263.1:c.*1134C>A	ENSP00000508369.1:n.*1134C>A
ENST00000684305.1:c.1958C>A	ENSP00000506819.1:n.1958C>A
ENST00000684415.1:c.*1061C>A	ENSP00000507227.1:n.*1061C>A
ENST00000684520.1:c.*769C>A	ENSP00000506826.1:n.*769C>A
ENST00000684602.1:c.*1176C>A	ENSP00000507996.1:n.*1176C>A
ENST00000684667.1:c.1841C>A	ENSP00000507003.1:n.1841C>A
ENST00000268097.10:c.1510C>A MANE Select	ENSP00000268097.6:p.Arg504Ser
ENST00000268097.9:c.1510C>A	ENSP00000268097.5:p.Arg504Ser
ENST00000379915.4:c.592C>A	ENSP00000478716.1:p.Arg198Ser
ENST00000564677.5:n.302C>A
ENST00000565873.1:n.421C>A
ENST00000566304.5:c.1543C>A	ENSP00000455114.1:p.Arg515Ser
ENST00000567027.5:c.1125C>A
ENST00000567159.5:c.1510C>A	ENSP00000456489.1:p.Arg504Ser
ENST00000567411.5:c.*1031C>A	ENSP00000455545.1:n.*1031C>A
ENST00000568777.5:n.6730C>A
ENST00000569116.1:n.217C>A
NM_000520.4:c.1510C>A	NP_000511.2:p.Arg504Ser
NM_000520.5:c.1510C>A	NP_000511.2:p.Arg504Ser
NM_001318825.1:c.1543C>A	NP_001305754.1:p.Arg515Ser
NR_134869.1:n.1754C>A
NM_000520.6:c.1510C>A MANE Select	NP_000511.2:p.Arg504Ser
NM_001318825.2:c.1543C>A	NP_001305754.1:p.Arg515Ser
NR_134869.2:n.1295C>A
NR_134869.3:n.1295C>A