Canonical Allele Identifier: CA393058498

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345458-C-T
• MyVariant Identifiers: chr15:g.72637799C>T (hg19) ; chr15:g.72345458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345458C>T , CM000677.2:g.72345458C>T	GRCh38
NC_000015.9:g.72637799C>T , CM000677.1:g.72637799C>T	GRCh37
NC_000015.8:g.70424853C>T	NCBI36
NG_009017.1:g.35722G>A
NG_009017.2:g.35722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*174G>A	ENSP00000457521.2:n.*174G>A
ENST00000682061.1:c.*1860G>A	ENSP00000508316.1:n.*1860G>A
ENST00000682064.1:n.1741G>A
ENST00000682177.1:c.1557G>A	ENSP00000507409.1:n.1557G>A
ENST00000682235.1:n.1537G>A
ENST00000682461.1:c.1620G>A	ENSP00000507308.1:n.1620G>A
ENST00000682653.1:n.2518G>A
ENST00000682657.1:c.*1351G>A	ENSP00000507753.1:n.*1351G>A
ENST00000682721.1:c.*1317G>A	ENSP00000507535.1:n.*1317G>A
ENST00000682843.1:c.*1155G>A	ENSP00000508173.1:n.*1155G>A
ENST00000683003.1:c.*1351G>A	ENSP00000507576.1:n.*1351G>A
ENST00000683133.1:c.1698G>A	ENSP00000508108.1:n.1698G>A
ENST00000683243.1:c.*667G>A	ENSP00000507042.1:n.*667G>A
ENST00000683463.1:c.*1003G>A	ENSP00000507986.1:n.*1003G>A
ENST00000683548.1:n.1972G>A
ENST00000683579.1:c.*1412G>A	ENSP00000506867.1:n.*1412G>A
ENST00000683587.1:n.2045G>A
ENST00000683681.1:c.*192G>A	ENSP00000508110.1:n.*192G>A
ENST00000683735.1:c.*1912G>A	ENSP00000508336.1:n.*1912G>A
ENST00000683853.1:c.*319G>A	ENSP00000506834.1:n.*319G>A
ENST00000683860.1:c.*634G>A	ENSP00000507179.1:n.*634G>A
ENST00000683884.1:c.*841G>A	ENSP00000507004.1:n.*841G>A
ENST00000684125.1:c.*174G>A	ENSP00000507320.1:n.*174G>A
ENST00000684203.1:n.3963G>A
ENST00000684231.1:c.*924G>A	ENSP00000507748.1:n.*924G>A
ENST00000684263.1:c.*1138G>A	ENSP00000508369.1:n.*1138G>A
ENST00000684305.1:c.1962G>A	ENSP00000506819.1:n.1962G>A
ENST00000684415.1:c.*1065G>A	ENSP00000507227.1:n.*1065G>A
ENST00000684520.1:c.*773G>A	ENSP00000506826.1:n.*773G>A
ENST00000684602.1:c.*1180G>A	ENSP00000507996.1:n.*1180G>A
ENST00000684667.1:c.1845G>A	ENSP00000507003.1:n.1845G>A
ENST00000268097.10:c.1514G>A MANE Select	ENSP00000268097.6:p.Cys505Tyr
ENST00000268097.9:c.1514G>A	ENSP00000268097.5:p.Cys505Tyr
ENST00000379915.4:c.596G>A	ENSP00000478716.1:p.Cys199Tyr
ENST00000564677.5:n.306G>A
ENST00000565873.1:n.425G>A
ENST00000566304.5:c.1547G>A	ENSP00000455114.1:p.Cys516Tyr
ENST00000567027.5:c.1129G>A
ENST00000567159.5:c.1514G>A	ENSP00000456489.1:p.Cys505Tyr
ENST00000567411.5:c.*1035G>A	ENSP00000455545.1:n.*1035G>A
ENST00000568777.5:n.6734G>A
ENST00000569116.1:n.221G>A
NM_000520.4:c.1514G>A	NP_000511.2:p.Cys505Tyr
NM_000520.5:c.1514G>A	NP_000511.2:p.Cys505Tyr
NM_001318825.1:c.1547G>A	NP_001305754.1:p.Cys516Tyr
NR_134869.1:n.1758G>A
NM_000520.6:c.1514G>A MANE Select	NP_000511.2:p.Cys505Tyr
NM_001318825.2:c.1547G>A	NP_001305754.1:p.Cys516Tyr
NR_134869.2:n.1299G>A
NR_134869.3:n.1299G>A