Canonical Allele Identifier: CA393060835

Gene: HEXA

Linked Data

• gnomAD v4: 15-72346608-A-G
• MyVariant Identifiers: chr15:g.72638949A>G (hg19) ; chr15:g.72346608A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346608A>G , CM000677.2:g.72346608A>G	GRCh38
NC_000015.9:g.72638949A>G , CM000677.1:g.72638949A>G	GRCh37
NC_000015.8:g.70426003A>G	NCBI36
NG_009017.1:g.34572T>C
NG_009017.2:g.34572T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1074-283T>C	ENSP00000457521.2:n.1074-283T>C
ENST00000682061.1:c.*911T>C	ENSP00000508316.1:n.*911T>C
ENST00000682064.1:n.591T>C
ENST00000682177.1:c.1292T>C	ENSP00000507409.1:n.1292T>C
ENST00000682235.1:n.588T>C
ENST00000682461.1:c.1355T>C	ENSP00000507308.1:n.1355T>C
ENST00000682653.1:n.1569T>C
ENST00000682657.1:c.*484-283T>C	ENSP00000507753.1:n.*484-283T>C
ENST00000682721.1:c.*1052T>C	ENSP00000507535.1:n.*1052T>C
ENST00000682843.1:c.*972-283T>C	ENSP00000508173.1:n.*972-283T>C
ENST00000683003.1:c.*484-283T>C	ENSP00000507576.1:n.*484-283T>C
ENST00000683133.1:c.1433T>C	ENSP00000508108.1:n.1433T>C
ENST00000683243.1:c.*484-283T>C	ENSP00000507042.1:n.*484-283T>C
ENST00000683463.1:c.*54T>C	ENSP00000507986.1:n.*54T>C
ENST00000683548.1:n.1105-283T>C
ENST00000683579.1:c.*1147T>C	ENSP00000506867.1:n.*1147T>C
ENST00000683587.1:n.1178-283T>C
ENST00000683681.1:c.1249T>C	ENSP00000508110.1:p.Ser417Pro
ENST00000683735.1:c.*1045-283T>C	ENSP00000508336.1:n.*1045-283T>C
ENST00000683853.1:c.*54T>C	ENSP00000506834.1:n.*54T>C
ENST00000683860.1:c.1249T>C	ENSP00000507179.1:p.Ser417Pro
ENST00000683884.1:c.1147-283T>C	ENSP00000507004.1:n.1147-283T>C
ENST00000684041.1:c.1249T>C	ENSP00000508382.1:p.Ser417Pro
ENST00000684125.1:c.1074-283T>C	ENSP00000507320.1:n.1074-283T>C
ENST00000684203.1:n.3014T>C
ENST00000684231.1:c.*659T>C	ENSP00000507748.1:n.*659T>C
ENST00000684263.1:c.*189T>C	ENSP00000508369.1:n.*189T>C
ENST00000684305.1:c.1697T>C	ENSP00000506819.1:n.1697T>C
ENST00000684415.1:c.*116T>C	ENSP00000507227.1:n.*116T>C
ENST00000684520.1:c.1249T>C	ENSP00000506826.1:p.Ser417Pro
ENST00000684602.1:c.*915T>C	ENSP00000507996.1:n.*915T>C
ENST00000684667.1:c.1580T>C	ENSP00000507003.1:n.1580T>C
ENST00000268097.10:c.1249T>C MANE Select	ENSP00000268097.6:p.Ser417Pro
ENST00000268097.9:c.1249T>C	ENSP00000268097.5:p.Ser417Pro
ENST00000379915.4:c.413-283T>C	ENSP00000478716.1:n.413-283T>C
ENST00000563762.5:c.826-283T>C	ENSP00000456346.1:n.826-283T>C
ENST00000566304.5:c.1282T>C	ENSP00000455114.1:p.Ser428Pro
ENST00000566672.5:c.*659T>C	ENSP00000457037.1:n.*659T>C
ENST00000567027.5:c.946-283T>C
ENST00000567159.5:c.1249T>C	ENSP00000456489.1:p.Ser417Pro
ENST00000567411.5:c.*770T>C	ENSP00000455545.1:n.*770T>C
ENST00000568777.5:n.6551-283T>C
ENST00000569410.5:c.*54T>C	ENSP00000457125.1:n.*54T>C
NM_000520.4:c.1249T>C	NP_000511.2:p.Ser417Pro
NM_000520.5:c.1249T>C	NP_000511.2:p.Ser417Pro
NM_001318825.1:c.1282T>C	NP_001305754.1:p.Ser428Pro
NR_134869.1:n.1575-283T>C
NM_000520.6:c.1249T>C MANE Select	NP_000511.2:p.Ser417Pro
NM_001318825.2:c.1282T>C	NP_001305754.1:p.Ser428Pro
NR_134869.2:n.1116-283T>C
NR_134869.3:n.1116-283T>C