Canonical Allele Identifier: CA393061386

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72639032A>T (hg19) ; chr15:g.72346691A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346691A>T , CM000677.2:g.72346691A>T	GRCh38
NC_000015.9:g.72639032A>T , CM000677.1:g.72639032A>T	GRCh37
NC_000015.8:g.70426086A>T	NCBI36
NG_009017.1:g.34489T>A
NG_009017.2:g.34489T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-366T>A	ENSP00000457521.2:n.1074-366T>A
ENST00000682061.1:c.*828T>A	ENSP00000508316.1:n.*828T>A
ENST00000682064.1:n.508T>A
ENST00000682177.1:c.1209T>A	ENSP00000507409.1:n.1209T>A
ENST00000682235.1:n.505T>A
ENST00000682461.1:c.1272T>A	ENSP00000507308.1:n.1272T>A
ENST00000682653.1:n.1486T>A
ENST00000682657.1:c.*484-366T>A	ENSP00000507753.1:n.*484-366T>A
ENST00000682721.1:c.*969T>A	ENSP00000507535.1:n.*969T>A
ENST00000682843.1:c.*972-366T>A	ENSP00000508173.1:n.*972-366T>A
ENST00000683003.1:c.*484-366T>A	ENSP00000507576.1:n.*484-366T>A
ENST00000683133.1:c.1350T>A	ENSP00000508108.1:n.1350T>A
ENST00000683243.1:c.*484-366T>A	ENSP00000507042.1:n.*484-366T>A
ENST00000683463.1:c.1093T>A	ENSP00000507986.1:p.Tyr365Asn
ENST00000683548.1:n.1105-366T>A
ENST00000683579.1:c.*1064T>A	ENSP00000506867.1:n.*1064T>A
ENST00000683587.1:n.1178-366T>A
ENST00000683681.1:c.1166T>A	ENSP00000508110.1:p.Ile389Lys
ENST00000683735.1:c.*1045-366T>A	ENSP00000508336.1:n.*1045-366T>A
ENST00000683853.1:c.1093T>A	ENSP00000506834.1:p.Tyr365Asn
ENST00000683860.1:c.1166T>A	ENSP00000507179.1:p.Ile389Lys
ENST00000683884.1:c.1147-366T>A	ENSP00000507004.1:n.1147-366T>A
ENST00000684041.1:c.1166T>A	ENSP00000508382.1:p.Ile389Lys
ENST00000684125.1:c.1074-366T>A	ENSP00000507320.1:n.1074-366T>A
ENST00000684203.1:n.2931T>A
ENST00000684231.1:c.*576T>A	ENSP00000507748.1:n.*576T>A
ENST00000684263.1:c.*106T>A	ENSP00000508369.1:n.*106T>A
ENST00000684305.1:c.1614T>A	ENSP00000506819.1:n.1614T>A
ENST00000684415.1:c.*33T>A	ENSP00000507227.1:n.*33T>A
ENST00000684520.1:c.1166T>A	ENSP00000506826.1:p.Ile389Lys
ENST00000684602.1:c.*832T>A	ENSP00000507996.1:n.*832T>A
ENST00000684667.1:c.1497T>A	ENSP00000507003.1:n.1497T>A
ENST00000268097.10:c.1166T>A MANE Select	ENSP00000268097.6:p.Ile389Lys
ENST00000268097.9:c.1166T>A	ENSP00000268097.5:p.Ile389Lys
ENST00000379915.4:c.413-366T>A	ENSP00000478716.1:n.413-366T>A
ENST00000563762.5:c.826-366T>A	ENSP00000456346.1:n.826-366T>A
ENST00000566304.5:c.1199T>A	ENSP00000455114.1:p.Ile400Lys
ENST00000566672.5:c.*576T>A	ENSP00000457037.1:n.*576T>A
ENST00000567027.5:c.946-366T>A
ENST00000567159.5:c.1166T>A	ENSP00000456489.1:p.Ile389Lys
ENST00000567411.5:c.*687T>A	ENSP00000455545.1:n.*687T>A
ENST00000568777.5:n.6551-366T>A
ENST00000569410.5:c.1093T>A	ENSP00000457125.1:p.Tyr365Asn
NM_000520.4:c.1166T>A	NP_000511.2:p.Ile389Lys
NM_000520.5:c.1166T>A	NP_000511.2:p.Ile389Lys
NM_001318825.1:c.1199T>A	NP_001305754.1:p.Ile400Lys
NR_134869.1:n.1575-366T>A
NM_000520.6:c.1166T>A MANE Select	NP_000511.2:p.Ile389Lys
NM_001318825.2:c.1199T>A	NP_001305754.1:p.Ile400Lys
NR_134869.2:n.1116-366T>A
NR_134869.3:n.1116-366T>A