Canonical Allele Identifier: CA393058437

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637791G>C (hg19) ; chr15:g.72345450G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345450G>C , CM000677.2:g.72345450G>C	GRCh38
NC_000015.9:g.72637791G>C , CM000677.1:g.72637791G>C	GRCh37
NC_000015.8:g.70424845G>C	NCBI36
NG_009017.1:g.35730C>G
NG_009017.2:g.35730C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*182C>G	ENSP00000457521.2:n.*182C>G
ENST00000682061.1:c.*1868C>G	ENSP00000508316.1:n.*1868C>G
ENST00000682064.1:n.1749C>G
ENST00000682177.1:c.1565C>G	ENSP00000507409.1:n.1565C>G
ENST00000682235.1:n.1545C>G
ENST00000682461.1:c.1628C>G	ENSP00000507308.1:n.1628C>G
ENST00000682653.1:n.2526C>G
ENST00000682657.1:c.*1359C>G	ENSP00000507753.1:n.*1359C>G
ENST00000682721.1:c.*1325C>G	ENSP00000507535.1:n.*1325C>G
ENST00000682843.1:c.*1163C>G	ENSP00000508173.1:n.*1163C>G
ENST00000683003.1:c.*1359C>G	ENSP00000507576.1:n.*1359C>G
ENST00000683133.1:c.1706C>G	ENSP00000508108.1:n.1706C>G
ENST00000683243.1:c.*675C>G	ENSP00000507042.1:n.*675C>G
ENST00000683463.1:c.*1011C>G	ENSP00000507986.1:n.*1011C>G
ENST00000683548.1:n.1980C>G
ENST00000683579.1:c.*1420C>G	ENSP00000506867.1:n.*1420C>G
ENST00000683587.1:n.2053C>G
ENST00000683681.1:c.*200C>G	ENSP00000508110.1:n.*200C>G
ENST00000683735.1:c.*1920C>G	ENSP00000508336.1:n.*1920C>G
ENST00000683853.1:c.*327C>G	ENSP00000506834.1:n.*327C>G
ENST00000683860.1:c.*642C>G	ENSP00000507179.1:n.*642C>G
ENST00000683884.1:c.*849C>G	ENSP00000507004.1:n.*849C>G
ENST00000684125.1:c.*182C>G	ENSP00000507320.1:n.*182C>G
ENST00000684203.1:n.3971C>G
ENST00000684231.1:c.*932C>G	ENSP00000507748.1:n.*932C>G
ENST00000684263.1:c.*1146C>G	ENSP00000508369.1:n.*1146C>G
ENST00000684305.1:c.1970C>G	ENSP00000506819.1:n.1970C>G
ENST00000684415.1:c.*1073C>G	ENSP00000507227.1:n.*1073C>G
ENST00000684520.1:c.*781C>G	ENSP00000506826.1:n.*781C>G
ENST00000684602.1:c.*1188C>G	ENSP00000507996.1:n.*1188C>G
ENST00000684667.1:c.1853C>G	ENSP00000507003.1:n.1853C>G
ENST00000268097.10:c.1522C>G MANE Select	ENSP00000268097.6:p.Leu508Val
ENST00000268097.9:c.1522C>G	ENSP00000268097.5:p.Leu508Val
ENST00000379915.4:c.604C>G	ENSP00000478716.1:p.Leu202Val
ENST00000564677.5:n.314C>G
ENST00000565873.1:n.433C>G
ENST00000566304.5:c.1555C>G	ENSP00000455114.1:p.Leu519Val
ENST00000567027.5:c.1137C>G
ENST00000567159.5:c.1522C>G	ENSP00000456489.1:p.Leu508Val
ENST00000567411.5:c.*1043C>G	ENSP00000455545.1:n.*1043C>G
ENST00000568777.5:n.6742C>G
ENST00000569116.1:n.229C>G
NM_000520.4:c.1522C>G	NP_000511.2:p.Leu508Val
NM_000520.5:c.1522C>G	NP_000511.2:p.Leu508Val
NM_001318825.1:c.1555C>G	NP_001305754.1:p.Leu519Val
NR_134869.1:n.1766C>G
NM_000520.6:c.1522C>G MANE Select	NP_000511.2:p.Leu508Val
NM_001318825.2:c.1555C>G	NP_001305754.1:p.Leu519Val
NR_134869.2:n.1307C>G
NR_134869.3:n.1307C>G