Canonical Allele Identifier: CA7644744

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1037233
• ClinVar RCV Id: RCV001340357
• dbSNP Id: rs535095877
• ExAC: 15:72638927 C / T
• gnomAD v2: 15-72638927-C-T
• gnomAD v3: 15-72346586-C-T
• gnomAD v4: 15-72346586-C-T
• COSMIC: COSM4690169
• MyVariant Identifiers: chr15:g.72638927C>T (hg19) ; chr15:g.72346586C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346586C>T , CM000677.2:g.72346586C>T	GRCh38
NC_000015.9:g.72638927C>T , CM000677.1:g.72638927C>T	GRCh37
NC_000015.8:g.70425981C>T	NCBI36
NG_009017.1:g.34594G>A
NG_009017.2:g.34594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-261G>A	ENSP00000457521.2:n.1074-261G>A
ENST00000682061.1:c.*933G>A	ENSP00000508316.1:n.*933G>A
ENST00000682064.1:n.613G>A
ENST00000682177.1:c.1314G>A	ENSP00000507409.1:n.1314G>A
ENST00000682235.1:n.610G>A
ENST00000682461.1:c.1377G>A	ENSP00000507308.1:n.1377G>A
ENST00000682653.1:n.1591G>A
ENST00000682657.1:c.*484-261G>A	ENSP00000507753.1:n.*484-261G>A
ENST00000682721.1:c.*1074G>A	ENSP00000507535.1:n.*1074G>A
ENST00000682843.1:c.*972-261G>A	ENSP00000508173.1:n.*972-261G>A
ENST00000683003.1:c.*484-261G>A	ENSP00000507576.1:n.*484-261G>A
ENST00000683133.1:c.1455G>A	ENSP00000508108.1:n.1455G>A
ENST00000683243.1:c.*484-261G>A	ENSP00000507042.1:n.*484-261G>A
ENST00000683463.1:c.*76G>A	ENSP00000507986.1:n.*76G>A
ENST00000683548.1:n.1105-261G>A
ENST00000683579.1:c.*1169G>A	ENSP00000506867.1:n.*1169G>A
ENST00000683587.1:n.1178-261G>A
ENST00000683681.1:c.1271G>A	ENSP00000508110.1:p.Arg424His
ENST00000683735.1:c.*1045-261G>A	ENSP00000508336.1:n.*1045-261G>A
ENST00000683853.1:c.*76G>A	ENSP00000506834.1:n.*76G>A
ENST00000683860.1:c.1271G>A	ENSP00000507179.1:p.Arg424His
ENST00000683884.1:c.1147-261G>A	ENSP00000507004.1:n.1147-261G>A
ENST00000684041.1:c.1271G>A	ENSP00000508382.1:p.Arg424His
ENST00000684125.1:c.1074-261G>A	ENSP00000507320.1:n.1074-261G>A
ENST00000684203.1:n.3036G>A
ENST00000684231.1:c.*681G>A	ENSP00000507748.1:n.*681G>A
ENST00000684263.1:c.*211G>A	ENSP00000508369.1:n.*211G>A
ENST00000684305.1:c.1719G>A	ENSP00000506819.1:n.1719G>A
ENST00000684415.1:c.*138G>A	ENSP00000507227.1:n.*138G>A
ENST00000684520.1:c.1271G>A	ENSP00000506826.1:p.Arg424His
ENST00000684602.1:c.*937G>A	ENSP00000507996.1:n.*937G>A
ENST00000684667.1:c.1602G>A	ENSP00000507003.1:n.1602G>A
ENST00000268097.10:c.1271G>A MANE Select	ENSP00000268097.6:p.Arg424His
ENST00000268097.9:c.1271G>A	ENSP00000268097.5:p.Arg424His
ENST00000379915.4:c.413-261G>A	ENSP00000478716.1:n.413-261G>A
ENST00000563762.5:c.826-261G>A	ENSP00000456346.1:n.826-261G>A
ENST00000566304.5:c.1304G>A	ENSP00000455114.1:p.Arg435His
ENST00000566672.5:c.*681G>A	ENSP00000457037.1:n.*681G>A
ENST00000567027.5:c.946-261G>A
ENST00000567159.5:c.1271G>A	ENSP00000456489.1:p.Arg424His
ENST00000567411.5:c.*792G>A	ENSP00000455545.1:n.*792G>A
ENST00000568777.5:n.6551-261G>A
ENST00000569410.5:c.*76G>A	ENSP00000457125.1:n.*76G>A
NM_000520.4:c.1271G>A	NP_000511.2:p.Arg424His
NM_000520.5:c.1271G>A	NP_000511.2:p.Arg424His
NM_001318825.1:c.1304G>A	NP_001305754.1:p.Arg435His
NR_134869.1:n.1575-261G>A
NM_000520.6:c.1271G>A MANE Select	NP_000511.2:p.Arg424His
NM_001318825.2:c.1304G>A	NP_001305754.1:p.Arg435His
NR_134869.2:n.1116-261G>A
NR_134869.3:n.1116-261G>A