Canonical Allele Identifier: CA393061103

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2168889
• ClinVar RCV Id: RCV003082796
• MyVariant Identifiers: chr15:g.72638989C>A (hg19) ; chr15:g.72346648C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346648C>A , CM000677.2:g.72346648C>A	GRCh38
NC_000015.9:g.72638989C>A , CM000677.1:g.72638989C>A	GRCh37
NC_000015.8:g.70426043C>A	NCBI36
NG_009017.1:g.34532G>T
NG_009017.2:g.34532G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-323G>T	ENSP00000457521.2:n.1074-323G>T
ENST00000682061.1:c.*871G>T	ENSP00000508316.1:n.*871G>T
ENST00000682064.1:n.551G>T
ENST00000682177.1:c.1252G>T	ENSP00000507409.1:n.1252G>T
ENST00000682235.1:n.548G>T
ENST00000682461.1:c.1315G>T	ENSP00000507308.1:n.1315G>T
ENST00000682653.1:n.1529G>T
ENST00000682657.1:c.*484-323G>T	ENSP00000507753.1:n.*484-323G>T
ENST00000682721.1:c.*1012G>T	ENSP00000507535.1:n.*1012G>T
ENST00000682843.1:c.*972-323G>T	ENSP00000508173.1:n.*972-323G>T
ENST00000683003.1:c.*484-323G>T	ENSP00000507576.1:n.*484-323G>T
ENST00000683133.1:c.1393G>T	ENSP00000508108.1:n.1393G>T
ENST00000683243.1:c.*484-323G>T	ENSP00000507042.1:n.*484-323G>T
ENST00000683463.1:c.*14G>T	ENSP00000507986.1:n.*14G>T
ENST00000683548.1:n.1105-323G>T
ENST00000683579.1:c.*1107G>T	ENSP00000506867.1:n.*1107G>T
ENST00000683587.1:n.1178-323G>T
ENST00000683681.1:c.1209G>T	ENSP00000508110.1:p.Glu403Asp
ENST00000683735.1:c.*1045-323G>T	ENSP00000508336.1:n.*1045-323G>T
ENST00000683853.1:c.*14G>T	ENSP00000506834.1:n.*14G>T
ENST00000683860.1:c.1209G>T	ENSP00000507179.1:p.Glu403Asp
ENST00000683884.1:c.1147-323G>T	ENSP00000507004.1:n.1147-323G>T
ENST00000684041.1:c.1209G>T	ENSP00000508382.1:p.Glu403Asp
ENST00000684125.1:c.1074-323G>T	ENSP00000507320.1:n.1074-323G>T
ENST00000684203.1:n.2974G>T
ENST00000684231.1:c.*619G>T	ENSP00000507748.1:n.*619G>T
ENST00000684263.1:c.*149G>T	ENSP00000508369.1:n.*149G>T
ENST00000684305.1:c.1657G>T	ENSP00000506819.1:n.1657G>T
ENST00000684415.1:c.*76G>T	ENSP00000507227.1:n.*76G>T
ENST00000684520.1:c.1209G>T	ENSP00000506826.1:p.Glu403Asp
ENST00000684602.1:c.*875G>T	ENSP00000507996.1:n.*875G>T
ENST00000684667.1:c.1540G>T	ENSP00000507003.1:n.1540G>T
ENST00000268097.10:c.1209G>T MANE Select	ENSP00000268097.6:p.Glu403Asp
ENST00000268097.9:c.1209G>T	ENSP00000268097.5:p.Glu403Asp
ENST00000379915.4:c.413-323G>T	ENSP00000478716.1:n.413-323G>T
ENST00000563762.5:c.826-323G>T	ENSP00000456346.1:n.826-323G>T
ENST00000566304.5:c.1242G>T	ENSP00000455114.1:p.Glu414Asp
ENST00000566672.5:c.*619G>T	ENSP00000457037.1:n.*619G>T
ENST00000567027.5:c.946-323G>T
ENST00000567159.5:c.1209G>T	ENSP00000456489.1:p.Glu403Asp
ENST00000567411.5:c.*730G>T	ENSP00000455545.1:n.*730G>T
ENST00000568777.5:n.6551-323G>T
ENST00000569410.5:c.*14G>T	ENSP00000457125.1:n.*14G>T
NM_000520.4:c.1209G>T	NP_000511.2:p.Glu403Asp
NM_000520.5:c.1209G>T	NP_000511.2:p.Glu403Asp
NM_001318825.1:c.1242G>T	NP_001305754.1:p.Glu414Asp
NR_134869.1:n.1575-323G>T
NM_000520.6:c.1209G>T MANE Select	NP_000511.2:p.Glu403Asp
NM_001318825.2:c.1242G>T	NP_001305754.1:p.Glu414Asp
NR_134869.2:n.1116-323G>T
NR_134869.3:n.1116-323G>T