Canonical Allele Identifier: CA393058440

Gene: HEXA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*182C>A	ENSP00000457521.2:n.*182C>A
ENST00000682061.1:c.*1868C>A	ENSP00000508316.1:n.*1868C>A
ENST00000682064.1:n.1749C>A
ENST00000682177.1:c.1565C>A	ENSP00000507409.1:n.1565C>A
ENST00000682235.1:n.1545C>A
ENST00000682461.1:c.1628C>A	ENSP00000507308.1:n.1628C>A
ENST00000682653.1:n.2526C>A
ENST00000682657.1:c.*1359C>A	ENSP00000507753.1:n.*1359C>A
ENST00000682721.1:c.*1325C>A	ENSP00000507535.1:n.*1325C>A
ENST00000682843.1:c.*1163C>A	ENSP00000508173.1:n.*1163C>A
ENST00000683003.1:c.*1359C>A	ENSP00000507576.1:n.*1359C>A
ENST00000683133.1:c.1706C>A	ENSP00000508108.1:n.1706C>A
ENST00000683243.1:c.*675C>A	ENSP00000507042.1:n.*675C>A
ENST00000683463.1:c.*1011C>A	ENSP00000507986.1:n.*1011C>A
ENST00000683548.1:n.1980C>A
ENST00000683579.1:c.*1420C>A	ENSP00000506867.1:n.*1420C>A
ENST00000683587.1:n.2053C>A
ENST00000683681.1:c.*200C>A	ENSP00000508110.1:n.*200C>A
ENST00000683735.1:c.*1920C>A	ENSP00000508336.1:n.*1920C>A
ENST00000683853.1:c.*327C>A	ENSP00000506834.1:n.*327C>A
ENST00000683860.1:c.*642C>A	ENSP00000507179.1:n.*642C>A
ENST00000683884.1:c.*849C>A	ENSP00000507004.1:n.*849C>A
ENST00000684125.1:c.*182C>A	ENSP00000507320.1:n.*182C>A
ENST00000684203.1:n.3971C>A
ENST00000684231.1:c.*932C>A	ENSP00000507748.1:n.*932C>A
ENST00000684263.1:c.*1146C>A	ENSP00000508369.1:n.*1146C>A
ENST00000684305.1:c.1970C>A	ENSP00000506819.1:n.1970C>A
ENST00000684415.1:c.*1073C>A	ENSP00000507227.1:n.*1073C>A
ENST00000684520.1:c.*781C>A	ENSP00000506826.1:n.*781C>A
ENST00000684602.1:c.*1188C>A	ENSP00000507996.1:n.*1188C>A
ENST00000684667.1:c.1853C>A	ENSP00000507003.1:n.1853C>A
ENST00000268097.10:c.1522C>A MANE Select	ENSP00000268097.6:p.Leu508Met
ENST00000268097.9:c.1522C>A	ENSP00000268097.5:p.Leu508Met
ENST00000379915.4:c.604C>A	ENSP00000478716.1:p.Leu202Met
ENST00000564677.5:n.314C>A
ENST00000565873.1:n.433C>A
ENST00000566304.5:c.1555C>A	ENSP00000455114.1:p.Leu519Met
ENST00000567027.5:c.1137C>A
ENST00000567159.5:c.1522C>A	ENSP00000456489.1:p.Leu508Met
ENST00000567411.5:c.*1043C>A	ENSP00000455545.1:n.*1043C>A
ENST00000568777.5:n.6742C>A
ENST00000569116.1:n.229C>A
NM_000520.4:c.1522C>A	NP_000511.2:p.Leu508Met
NM_000520.5:c.1522C>A	NP_000511.2:p.Leu508Met
NM_001318825.1:c.1555C>A	NP_001305754.1:p.Leu519Met
NR_134869.1:n.1766C>A
NM_000520.6:c.1522C>A MANE Select	NP_000511.2:p.Leu508Met
NM_001318825.2:c.1555C>A	NP_001305754.1:p.Leu519Met
NR_134869.2:n.1307C>A
NR_134869.3:n.1307C>A