Canonical Allele Identifier: CA491111124

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637789C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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