Canonical Allele Identifier: CA393061828

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72640393G>T (hg19) ; chr15:g.72348052G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348052G>T , CM000677.2:g.72348052G>T	GRCh38
NC_000015.9:g.72640393G>T , CM000677.1:g.72640393G>T	GRCh37
NC_000015.8:g.70427447G>T	NCBI36
NG_009017.1:g.33128C>A
NG_009017.2:g.33128C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.3415C>A
ENST00000567027.6:c.1069C>A	ENSP00000457521.2:p.Gln357Lys
ENST00000682061.1:c.*731C>A	ENSP00000508316.1:n.*731C>A
ENST00000682177.1:c.1112C>A	ENSP00000507409.1:n.1112C>A
ENST00000682461.1:c.1175C>A	ENSP00000507308.1:n.1175C>A
ENST00000682653.1:n.1100C>A
ENST00000682657.1:c.*479C>A	ENSP00000507753.1:n.*479C>A
ENST00000682721.1:c.*872C>A	ENSP00000507535.1:n.*872C>A
ENST00000682843.1:c.*967C>A	ENSP00000508173.1:n.*967C>A
ENST00000683003.1:c.*479C>A	ENSP00000507576.1:n.*479C>A
ENST00000683133.1:c.1253C>A	ENSP00000508108.1:n.1253C>A
ENST00000683228.1:n.1100C>A
ENST00000683243.1:c.*479C>A	ENSP00000507042.1:n.*479C>A
ENST00000683463.1:c.1069C>A	ENSP00000507986.1:p.Gln357Lys
ENST00000683548.1:n.1100C>A
ENST00000683579.1:c.*967C>A	ENSP00000506867.1:n.*967C>A
ENST00000683587.1:n.1100C>A
ENST00000683681.1:c.1069C>A	ENSP00000508110.1:p.Gln357Lys
ENST00000683735.1:c.*967C>A	ENSP00000508336.1:n.*967C>A
ENST00000683742.1:n.900C>A
ENST00000683853.1:c.1069C>A	ENSP00000506834.1:p.Gln357Lys
ENST00000683860.1:c.1069C>A	ENSP00000507179.1:p.Gln357Lys
ENST00000683884.1:c.1069C>A	ENSP00000507004.1:p.Gln357Lys
ENST00000684041.1:c.1069C>A	ENSP00000508382.1:p.Gln357Lys
ENST00000684125.1:c.1069C>A	ENSP00000507320.1:p.Gln357Lys
ENST00000684203.1:n.2907C>A
ENST00000684231.1:c.*479C>A	ENSP00000507748.1:n.*479C>A
ENST00000684263.1:c.1069C>A	ENSP00000508369.1:p.Gln357Lys
ENST00000684305.1:c.1517C>A	ENSP00000506819.1:n.1517C>A
ENST00000684415.1:c.1069C>A	ENSP00000507227.1:p.Gln357Lys
ENST00000684520.1:c.1069C>A	ENSP00000506826.1:p.Gln357Lys
ENST00000684602.1:c.*735C>A	ENSP00000507996.1:n.*735C>A
ENST00000684667.1:c.1400C>A	ENSP00000507003.1:n.1400C>A
ENST00000268097.10:c.1069C>A MANE Select	ENSP00000268097.6:p.Gln357Lys
ENST00000268097.9:c.1069C>A	ENSP00000268097.5:p.Gln357Lys
ENST00000379915.4:c.413-1727C>A	ENSP00000478716.1:n.413-1727C>A
ENST00000563762.5:c.821C>A	ENSP00000456346.1:n.821C>A
ENST00000566304.5:c.1102C>A	ENSP00000455114.1:p.Gln368Lys
ENST00000566672.5:c.*479C>A	ENSP00000457037.1:n.*479C>A
ENST00000567027.5:c.941C>A
ENST00000567159.5:c.1069C>A	ENSP00000456489.1:p.Gln357Lys
ENST00000567411.5:c.*590C>A	ENSP00000455545.1:n.*590C>A
ENST00000568777.5:n.6473C>A
ENST00000569410.5:c.1069C>A	ENSP00000457125.1:p.Gln357Lys
NM_000520.4:c.1069C>A	NP_000511.2:p.Gln357Lys
NM_000520.5:c.1069C>A	NP_000511.2:p.Gln357Lys
NM_001318825.1:c.1102C>A	NP_001305754.1:p.Gln368Lys
NR_134869.1:n.1570C>A
NM_000520.6:c.1069C>A MANE Select	NP_000511.2:p.Gln357Lys
NM_001318825.2:c.1102C>A	NP_001305754.1:p.Gln368Lys
NR_134869.2:n.1111C>A
NR_134869.3:n.1111C>A