Canonical Allele Identifier: CA393058589

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345474-A-C
• MyVariant Identifiers: chr15:g.72637815A>C (hg19) ; chr15:g.72345474A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345474A>C , CM000677.2:g.72345474A>C	GRCh38
NC_000015.9:g.72637815A>C , CM000677.1:g.72637815A>C	GRCh37
NC_000015.8:g.70424869A>C	NCBI36
NG_009017.1:g.35706T>G
NG_009017.2:g.35706T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*158T>G	ENSP00000457521.2:n.*158T>G
ENST00000682061.1:c.*1844T>G	ENSP00000508316.1:n.*1844T>G
ENST00000682064.1:n.1725T>G
ENST00000682177.1:c.1541T>G	ENSP00000507409.1:n.1541T>G
ENST00000682235.1:n.1521T>G
ENST00000682461.1:c.1604T>G	ENSP00000507308.1:n.1604T>G
ENST00000682653.1:n.2502T>G
ENST00000682657.1:c.*1335T>G	ENSP00000507753.1:n.*1335T>G
ENST00000682721.1:c.*1301T>G	ENSP00000507535.1:n.*1301T>G
ENST00000682843.1:c.*1139T>G	ENSP00000508173.1:n.*1139T>G
ENST00000683003.1:c.*1335T>G	ENSP00000507576.1:n.*1335T>G
ENST00000683133.1:c.1682T>G	ENSP00000508108.1:n.1682T>G
ENST00000683243.1:c.*651T>G	ENSP00000507042.1:n.*651T>G
ENST00000683463.1:c.*987T>G	ENSP00000507986.1:n.*987T>G
ENST00000683548.1:n.1956T>G
ENST00000683579.1:c.*1396T>G	ENSP00000506867.1:n.*1396T>G
ENST00000683587.1:n.2029T>G
ENST00000683681.1:c.*176T>G	ENSP00000508110.1:n.*176T>G
ENST00000683735.1:c.*1896T>G	ENSP00000508336.1:n.*1896T>G
ENST00000683853.1:c.*303T>G	ENSP00000506834.1:n.*303T>G
ENST00000683860.1:c.*618T>G	ENSP00000507179.1:n.*618T>G
ENST00000683884.1:c.*825T>G	ENSP00000507004.1:n.*825T>G
ENST00000684041.1:c.*631T>G	ENSP00000508382.1:n.*631T>G
ENST00000684125.1:c.*158T>G	ENSP00000507320.1:n.*158T>G
ENST00000684203.1:n.3947T>G
ENST00000684231.1:c.*908T>G	ENSP00000507748.1:n.*908T>G
ENST00000684263.1:c.*1122T>G	ENSP00000508369.1:n.*1122T>G
ENST00000684305.1:c.1946T>G	ENSP00000506819.1:n.1946T>G
ENST00000684415.1:c.*1049T>G	ENSP00000507227.1:n.*1049T>G
ENST00000684520.1:c.*757T>G	ENSP00000506826.1:n.*757T>G
ENST00000684602.1:c.*1164T>G	ENSP00000507996.1:n.*1164T>G
ENST00000684667.1:c.1829T>G	ENSP00000507003.1:n.1829T>G
ENST00000268097.10:c.1498T>G MANE Select	ENSP00000268097.6:p.Leu500Val
ENST00000268097.9:c.1498T>G	ENSP00000268097.5:p.Leu500Val
ENST00000379915.4:c.580T>G	ENSP00000478716.1:p.Leu194Val
ENST00000564677.5:n.290T>G
ENST00000565873.1:n.409T>G
ENST00000566304.5:c.1531T>G	ENSP00000455114.1:p.Leu511Val
ENST00000567027.5:c.1113T>G
ENST00000567159.5:c.1498T>G	ENSP00000456489.1:p.Leu500Val
ENST00000567411.5:c.*1019T>G	ENSP00000455545.1:n.*1019T>G
ENST00000568777.5:n.6718T>G
ENST00000569116.1:n.205T>G
NM_000520.4:c.1498T>G	NP_000511.2:p.Leu500Val
NM_000520.5:c.1498T>G	NP_000511.2:p.Leu500Val
NM_001318825.1:c.1531T>G	NP_001305754.1:p.Leu511Val
NR_134869.1:n.1742T>G
NM_000520.6:c.1498T>G MANE Select	NP_000511.2:p.Leu500Val
NM_001318825.2:c.1531T>G	NP_001305754.1:p.Leu511Val
NR_134869.2:n.1283T>G
NR_134869.3:n.1283T>G