Canonical Allele Identifier: CA491111433

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637834C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345493C>A , CM000677.2:g.72345493C>A	GRCh38
NC_000015.9:g.72637834C>A , CM000677.1:g.72637834C>A	GRCh37
NC_000015.8:g.70424888C>A	NCBI36
NG_009017.1:g.35687G>T
NG_009017.2:g.35687G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*139G>T	ENSP00000457521.2:n.*139G>T
ENST00000682061.1:c.*1825G>T	ENSP00000508316.1:n.*1825G>T
ENST00000682064.1:n.1706G>T
ENST00000682177.1:c.1522G>T	ENSP00000507409.1:n.1522G>T
ENST00000682235.1:n.1502G>T
ENST00000682461.1:c.1585G>T	ENSP00000507308.1:n.1585G>T
ENST00000682653.1:n.2483G>T
ENST00000682657.1:c.*1316G>T	ENSP00000507753.1:n.*1316G>T
ENST00000682721.1:c.*1282G>T	ENSP00000507535.1:n.*1282G>T
ENST00000682843.1:c.*1120G>T	ENSP00000508173.1:n.*1120G>T
ENST00000683003.1:c.*1316G>T	ENSP00000507576.1:n.*1316G>T
ENST00000683133.1:c.1663G>T	ENSP00000508108.1:n.1663G>T
ENST00000683243.1:c.*632G>T	ENSP00000507042.1:n.*632G>T
ENST00000683463.1:c.*968G>T	ENSP00000507986.1:n.*968G>T
ENST00000683548.1:n.1937G>T
ENST00000683579.1:c.*1377G>T	ENSP00000506867.1:n.*1377G>T
ENST00000683587.1:n.2010G>T
ENST00000683681.1:c.*157G>T	ENSP00000508110.1:n.*157G>T
ENST00000683735.1:c.*1877G>T	ENSP00000508336.1:n.*1877G>T
ENST00000683853.1:c.*284G>T	ENSP00000506834.1:n.*284G>T
ENST00000683860.1:c.*599G>T	ENSP00000507179.1:n.*599G>T
ENST00000683884.1:c.*806G>T	ENSP00000507004.1:n.*806G>T
ENST00000684041.1:c.*612G>T	ENSP00000508382.1:n.*612G>T
ENST00000684125.1:c.*139G>T	ENSP00000507320.1:n.*139G>T
ENST00000684203.1:n.3928G>T
ENST00000684231.1:c.*889G>T	ENSP00000507748.1:n.*889G>T
ENST00000684263.1:c.*1103G>T	ENSP00000508369.1:n.*1103G>T
ENST00000684305.1:c.1927G>T	ENSP00000506819.1:n.1927G>T
ENST00000684415.1:c.*1030G>T	ENSP00000507227.1:n.*1030G>T
ENST00000684520.1:c.*738G>T	ENSP00000506826.1:n.*738G>T
ENST00000684602.1:c.*1145G>T	ENSP00000507996.1:n.*1145G>T
ENST00000684667.1:c.1810G>T	ENSP00000507003.1:n.1810G>T
ENST00000268097.10:c.1479G>T MANE Select	ENSP00000268097.6:p.Leu493=
ENST00000268097.9:c.1479G>T	ENSP00000268097.5:p.Leu493=
ENST00000379915.4:c.561G>T	ENSP00000478716.1:p.Leu187=
ENST00000564677.5:n.271G>T
ENST00000565873.1:n.390G>T
ENST00000566304.5:c.1512G>T	ENSP00000455114.1:p.Leu504=
ENST00000567027.5:c.1094G>T
ENST00000567159.5:c.1479G>T	ENSP00000456489.1:p.Leu493=
ENST00000567411.5:c.*1000G>T	ENSP00000455545.1:n.*1000G>T
ENST00000568777.5:n.6699G>T
ENST00000569116.1:n.186G>T
NM_000520.4:c.1479G>T	NP_000511.2:p.Leu493=
NM_000520.5:c.1479G>T	NP_000511.2:p.Leu493=
NM_001318825.1:c.1512G>T	NP_001305754.1:p.Leu504=
NR_134869.1:n.1723G>T
NM_000520.6:c.1479G>T MANE Select	NP_000511.2:p.Leu493=
NM_001318825.2:c.1512G>T	NP_001305754.1:p.Leu504=
NR_134869.2:n.1264G>T
NR_134869.3:n.1264G>T