Canonical Allele Identifier: CA393061059

Gene: HEXA

Linked Data

• gnomAD v4: 15-72346640-A-C
• MyVariant Identifiers: chr15:g.72638981A>C (hg19) ; chr15:g.72346640A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346640A>C , CM000677.2:g.72346640A>C	GRCh38
NC_000015.9:g.72638981A>C , CM000677.1:g.72638981A>C	GRCh37
NC_000015.8:g.70426035A>C	NCBI36
NG_009017.1:g.34540T>G
NG_009017.2:g.34540T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-315T>G	ENSP00000457521.2:n.1074-315T>G
ENST00000682061.1:c.*879T>G	ENSP00000508316.1:n.*879T>G
ENST00000682064.1:n.559T>G
ENST00000682177.1:c.1260T>G	ENSP00000507409.1:n.1260T>G
ENST00000682235.1:n.556T>G
ENST00000682461.1:c.1323T>G	ENSP00000507308.1:n.1323T>G
ENST00000682653.1:n.1537T>G
ENST00000682657.1:c.*484-315T>G	ENSP00000507753.1:n.*484-315T>G
ENST00000682721.1:c.*1020T>G	ENSP00000507535.1:n.*1020T>G
ENST00000682843.1:c.*972-315T>G	ENSP00000508173.1:n.*972-315T>G
ENST00000683003.1:c.*484-315T>G	ENSP00000507576.1:n.*484-315T>G
ENST00000683133.1:c.1401T>G	ENSP00000508108.1:n.1401T>G
ENST00000683243.1:c.*484-315T>G	ENSP00000507042.1:n.*484-315T>G
ENST00000683463.1:c.*22T>G	ENSP00000507986.1:n.*22T>G
ENST00000683548.1:n.1105-315T>G
ENST00000683579.1:c.*1115T>G	ENSP00000506867.1:n.*1115T>G
ENST00000683587.1:n.1178-315T>G
ENST00000683681.1:c.1217T>G	ENSP00000508110.1:p.Leu406Arg
ENST00000683735.1:c.*1045-315T>G	ENSP00000508336.1:n.*1045-315T>G
ENST00000683853.1:c.*22T>G	ENSP00000506834.1:n.*22T>G
ENST00000683860.1:c.1217T>G	ENSP00000507179.1:p.Leu406Arg
ENST00000683884.1:c.1147-315T>G	ENSP00000507004.1:n.1147-315T>G
ENST00000684041.1:c.1217T>G	ENSP00000508382.1:p.Leu406Arg
ENST00000684125.1:c.1074-315T>G	ENSP00000507320.1:n.1074-315T>G
ENST00000684203.1:n.2982T>G
ENST00000684231.1:c.*627T>G	ENSP00000507748.1:n.*627T>G
ENST00000684263.1:c.*157T>G	ENSP00000508369.1:n.*157T>G
ENST00000684305.1:c.1665T>G	ENSP00000506819.1:n.1665T>G
ENST00000684415.1:c.*84T>G	ENSP00000507227.1:n.*84T>G
ENST00000684520.1:c.1217T>G	ENSP00000506826.1:p.Leu406Arg
ENST00000684602.1:c.*883T>G	ENSP00000507996.1:n.*883T>G
ENST00000684667.1:c.1548T>G	ENSP00000507003.1:n.1548T>G
ENST00000268097.10:c.1217T>G MANE Select	ENSP00000268097.6:p.Leu406Arg
ENST00000268097.9:c.1217T>G	ENSP00000268097.5:p.Leu406Arg
ENST00000379915.4:c.413-315T>G	ENSP00000478716.1:n.413-315T>G
ENST00000563762.5:c.826-315T>G	ENSP00000456346.1:n.826-315T>G
ENST00000566304.5:c.1250T>G	ENSP00000455114.1:p.Leu417Arg
ENST00000566672.5:c.*627T>G	ENSP00000457037.1:n.*627T>G
ENST00000567027.5:c.946-315T>G
ENST00000567159.5:c.1217T>G	ENSP00000456489.1:p.Leu406Arg
ENST00000567411.5:c.*738T>G	ENSP00000455545.1:n.*738T>G
ENST00000568777.5:n.6551-315T>G
ENST00000569410.5:c.*22T>G	ENSP00000457125.1:n.*22T>G
NM_000520.4:c.1217T>G	NP_000511.2:p.Leu406Arg
NM_000520.5:c.1217T>G	NP_000511.2:p.Leu406Arg
NM_001318825.1:c.1250T>G	NP_001305754.1:p.Leu417Arg
NR_134869.1:n.1575-315T>G
NM_000520.6:c.1217T>G MANE Select	NP_000511.2:p.Leu406Arg
NM_001318825.2:c.1250T>G	NP_001305754.1:p.Leu417Arg
NR_134869.2:n.1116-315T>G
NR_134869.3:n.1116-315T>G