Canonical Allele Identifier: CA491115525

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1998603
• ClinVar RCV Id: RCV002810576
• MyVariant Identifiers: chr15:g.72638641C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346300C>T , CM000677.2:g.72346300C>T	GRCh38
NC_000015.9:g.72638641C>T , CM000677.1:g.72638641C>T	GRCh37
NC_000015.8:g.70425695C>T	NCBI36
NG_009017.1:g.34880G>A
NG_009017.2:g.34880G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*16G>A	ENSP00000457521.2:n.*16G>A
ENST00000682061.1:c.*1018G>A	ENSP00000508316.1:n.*1018G>A
ENST00000682064.1:n.899G>A
ENST00000682177.1:c.1399G>A	ENSP00000507409.1:n.1399G>A
ENST00000682235.1:n.695G>A
ENST00000682461.1:c.1462G>A	ENSP00000507308.1:n.1462G>A
ENST00000682653.1:n.1676G>A
ENST00000682657.1:c.*509G>A	ENSP00000507753.1:n.*509G>A
ENST00000682721.1:c.*1159G>A	ENSP00000507535.1:n.*1159G>A
ENST00000682843.1:c.*997G>A	ENSP00000508173.1:n.*997G>A
ENST00000683003.1:c.*509G>A	ENSP00000507576.1:n.*509G>A
ENST00000683133.1:c.1540G>A	ENSP00000508108.1:n.1540G>A
ENST00000683243.1:c.*509G>A	ENSP00000507042.1:n.*509G>A
ENST00000683463.1:c.*161G>A	ENSP00000507986.1:n.*161G>A
ENST00000683548.1:n.1130G>A
ENST00000683579.1:c.*1254G>A	ENSP00000506867.1:n.*1254G>A
ENST00000683587.1:n.1203G>A
ENST00000683681.1:c.1356G>A	ENSP00000508110.1:p.Val452=
ENST00000683735.1:c.*1070G>A	ENSP00000508336.1:n.*1070G>A
ENST00000683853.1:c.*161G>A	ENSP00000506834.1:n.*161G>A
ENST00000683860.1:c.1356G>A	ENSP00000507179.1:p.Val452=
ENST00000683884.1:c.1172G>A	ENSP00000507004.1:p.Ter391=
ENST00000684041.1:c.1356G>A	ENSP00000508382.1:p.Val452=
ENST00000684125.1:c.*16G>A	ENSP00000507320.1:n.*16G>A
ENST00000684203.1:n.3121G>A
ENST00000684231.1:c.*766G>A	ENSP00000507748.1:n.*766G>A
ENST00000684263.1:c.*296G>A	ENSP00000508369.1:n.*296G>A
ENST00000684305.1:c.1804G>A	ENSP00000506819.1:n.1804G>A
ENST00000684415.1:c.*223G>A	ENSP00000507227.1:n.*223G>A
ENST00000684520.1:c.1356G>A	ENSP00000506826.1:p.Val452=
ENST00000684602.1:c.*1022G>A	ENSP00000507996.1:n.*1022G>A
ENST00000684667.1:c.1687G>A	ENSP00000507003.1:n.1687G>A
ENST00000268097.10:c.1356G>A MANE Select	ENSP00000268097.6:p.Val452=
ENST00000268097.9:c.1356G>A	ENSP00000268097.5:p.Val452=
ENST00000379915.4:c.438G>A	ENSP00000478716.1:p.Val146=
ENST00000563762.5:c.851G>A	ENSP00000456346.1:n.851G>A
ENST00000566304.5:c.1389G>A	ENSP00000455114.1:p.Val463=
ENST00000566672.5:c.*766G>A	ENSP00000457037.1:n.*766G>A
ENST00000567027.5:c.971G>A
ENST00000567159.5:c.1356G>A	ENSP00000456489.1:p.Val452=
ENST00000567411.5:c.*877G>A	ENSP00000455545.1:n.*877G>A
ENST00000568777.5:n.6576G>A
ENST00000569410.5:c.*161G>A	ENSP00000457125.1:n.*161G>A
NM_000520.4:c.1356G>A	NP_000511.2:p.Val452=
NM_000520.5:c.1356G>A	NP_000511.2:p.Val452=
NM_001318825.1:c.1389G>A	NP_001305754.1:p.Val463=
NR_134869.1:n.1600G>A
NM_000520.6:c.1356G>A MANE Select	NP_000511.2:p.Val452=
NM_001318825.2:c.1389G>A	NP_001305754.1:p.Val463=
NR_134869.2:n.1141G>A
NR_134869.3:n.1141G>A