Canonical Allele Identifier: CA491111129

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1666925
• ClinVar RCV Id: RCV002184465
• dbSNP Id: rs2140319542
• COSMIC: COSM5956208
• MyVariant Identifiers: chr15:g.72637789C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345448C>T , CM000677.2:g.72345448C>T	GRCh38
NC_000015.9:g.72637789C>T , CM000677.1:g.72637789C>T	GRCh37
NC_000015.8:g.70424843C>T	NCBI36
NG_009017.1:g.35732G>A
NG_009017.2:g.35732G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*184G>A	ENSP00000457521.2:n.*184G>A
ENST00000682061.1:c.*1870G>A	ENSP00000508316.1:n.*1870G>A
ENST00000682064.1:n.1751G>A
ENST00000682177.1:c.1567G>A	ENSP00000507409.1:n.1567G>A
ENST00000682235.1:n.1547G>A
ENST00000682461.1:c.1630G>A	ENSP00000507308.1:n.1630G>A
ENST00000682653.1:n.2528G>A
ENST00000682657.1:c.*1361G>A	ENSP00000507753.1:n.*1361G>A
ENST00000682721.1:c.*1327G>A	ENSP00000507535.1:n.*1327G>A
ENST00000682843.1:c.*1165G>A	ENSP00000508173.1:n.*1165G>A
ENST00000683003.1:c.*1361G>A	ENSP00000507576.1:n.*1361G>A
ENST00000683133.1:c.1708G>A	ENSP00000508108.1:n.1708G>A
ENST00000683243.1:c.*677G>A	ENSP00000507042.1:n.*677G>A
ENST00000683463.1:c.*1013G>A	ENSP00000507986.1:n.*1013G>A
ENST00000683548.1:n.1982G>A
ENST00000683579.1:c.*1422G>A	ENSP00000506867.1:n.*1422G>A
ENST00000683587.1:n.2055G>A
ENST00000683681.1:c.*202G>A	ENSP00000508110.1:n.*202G>A
ENST00000683735.1:c.*1922G>A	ENSP00000508336.1:n.*1922G>A
ENST00000683853.1:c.*329G>A	ENSP00000506834.1:n.*329G>A
ENST00000683860.1:c.*644G>A	ENSP00000507179.1:n.*644G>A
ENST00000683884.1:c.*851G>A	ENSP00000507004.1:n.*851G>A
ENST00000684125.1:c.*184G>A	ENSP00000507320.1:n.*184G>A
ENST00000684203.1:n.3973G>A
ENST00000684231.1:c.*934G>A	ENSP00000507748.1:n.*934G>A
ENST00000684263.1:c.*1148G>A	ENSP00000508369.1:n.*1148G>A
ENST00000684305.1:c.1972G>A	ENSP00000506819.1:n.1972G>A
ENST00000684415.1:c.*1075G>A	ENSP00000507227.1:n.*1075G>A
ENST00000684520.1:c.*783G>A	ENSP00000506826.1:n.*783G>A
ENST00000684602.1:c.*1190G>A	ENSP00000507996.1:n.*1190G>A
ENST00000684667.1:c.1855G>A	ENSP00000507003.1:n.1855G>A
ENST00000268097.10:c.1524G>A MANE Select	ENSP00000268097.6:p.Leu508=
ENST00000268097.9:c.1524G>A	ENSP00000268097.5:p.Leu508=
ENST00000379915.4:c.606G>A	ENSP00000478716.1:p.Leu202=
ENST00000564677.5:n.316G>A
ENST00000565873.1:n.435G>A
ENST00000566304.5:c.1557G>A	ENSP00000455114.1:p.Leu519=
ENST00000567027.5:c.1139G>A
ENST00000567159.5:c.1524G>A	ENSP00000456489.1:p.Leu508=
ENST00000567411.5:c.*1045G>A	ENSP00000455545.1:n.*1045G>A
ENST00000568777.5:n.6744G>A
ENST00000569116.1:n.231G>A
NM_000520.4:c.1524G>A	NP_000511.2:p.Leu508=
NM_000520.5:c.1524G>A	NP_000511.2:p.Leu508=
NM_001318825.1:c.1557G>A	NP_001305754.1:p.Leu519=
NR_134869.1:n.1768G>A
NM_000520.6:c.1524G>A MANE Select	NP_000511.2:p.Leu508=
NM_001318825.2:c.1557G>A	NP_001305754.1:p.Leu519=
NR_134869.2:n.1309G>A
NR_134869.3:n.1309G>A