Canonical Allele Identifier: CA7644691

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2997528
• ClinVar RCV Id: RCV003854127
• dbSNP Id: rs759574076
• ExAC: 15:72638557 C / A
• gnomAD v3: 15-72346216-C-A
• gnomAD v4: 15-72346216-C-A
• MyVariant Identifiers: chr15:g.72638557C>A (hg19) ; chr15:g.72346216C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346216C>A , CM000677.2:g.72346216C>A	GRCh38
NC_000015.9:g.72638557C>A , CM000677.1:g.72638557C>A	GRCh37
NC_000015.8:g.70425611C>A	NCBI36
NG_009017.1:g.34964G>T
NG_009017.2:g.34964G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*81+19G>T	ENSP00000457521.2:n.*81+19G>T
ENST00000682061.1:c.*1102G>T	ENSP00000508316.1:n.*1102G>T
ENST00000682064.1:n.983G>T
ENST00000682177.1:c.1464+19G>T	ENSP00000507409.1:n.1464+19G>T
ENST00000682235.1:n.779G>T
ENST00000682461.1:c.1527+19G>T	ENSP00000507308.1:n.1527+19G>T
ENST00000682653.1:n.1760G>T
ENST00000682657.1:c.*593G>T	ENSP00000507753.1:n.*593G>T
ENST00000682721.1:c.*1224+19G>T	ENSP00000507535.1:n.*1224+19G>T
ENST00000682843.1:c.*1062+19G>T	ENSP00000508173.1:n.*1062+19G>T
ENST00000683003.1:c.*593G>T	ENSP00000507576.1:n.*593G>T
ENST00000683133.1:c.1605+19G>T	ENSP00000508108.1:n.1605+19G>T
ENST00000683243.1:c.*574+19G>T	ENSP00000507042.1:n.*574+19G>T
ENST00000683463.1:c.*245G>T	ENSP00000507986.1:n.*245G>T
ENST00000683548.1:n.1214G>T
ENST00000683579.1:c.*1319+19G>T	ENSP00000506867.1:n.*1319+19G>T
ENST00000683587.1:n.1287G>T
ENST00000683681.1:c.1421+19G>T	ENSP00000508110.1:n.1421+19G>T
ENST00000683735.1:c.*1154G>T	ENSP00000508336.1:n.*1154G>T
ENST00000683853.1:c.*226+19G>T	ENSP00000506834.1:n.*226+19G>T
ENST00000683860.1:c.1421+19G>T	ENSP00000507179.1:n.1421+19G>T
ENST00000683884.1:c.*83G>T	ENSP00000507004.1:n.*83G>T
ENST00000684041.1:c.*15G>T	ENSP00000508382.1:n.*15G>T
ENST00000684125.1:c.*81+19G>T	ENSP00000507320.1:n.*81+19G>T
ENST00000684203.1:n.3205G>T
ENST00000684231.1:c.*831+19G>T	ENSP00000507748.1:n.*831+19G>T
ENST00000684263.1:c.*380G>T	ENSP00000508369.1:n.*380G>T
ENST00000684305.1:c.1869+19G>T	ENSP00000506819.1:n.1869+19G>T
ENST00000684415.1:c.*307G>T	ENSP00000507227.1:n.*307G>T
ENST00000684520.1:c.*15G>T	ENSP00000506826.1:n.*15G>T
ENST00000684602.1:c.*1087+19G>T	ENSP00000507996.1:n.*1087+19G>T
ENST00000684667.1:c.1752+19G>T	ENSP00000507003.1:n.1752+19G>T
ENST00000268097.10:c.1421+19G>T MANE Select	ENSP00000268097.6:n.1421+19G>T
ENST00000268097.9:c.1421+19G>T	ENSP00000268097.5:n.1421+19G>T
ENST00000379915.4:c.503+19G>T	ENSP00000478716.1:n.503+19G>T
ENST00000563762.5:c.935G>T	ENSP00000456346.1:n.935G>T
ENST00000566304.5:c.1454+19G>T	ENSP00000455114.1:n.1454+19G>T
ENST00000566672.5:c.*850G>T	ENSP00000457037.1:n.*850G>T
ENST00000567027.5:c.1036+19G>T
ENST00000567159.5:c.1421+19G>T	ENSP00000456489.1:n.1421+19G>T
ENST00000567411.5:c.*942+19G>T	ENSP00000455545.1:n.*942+19G>T
ENST00000568777.5:n.6641+19G>T
NM_000520.4:c.1421+19G>T	NP_000511.2:n.1421+19G>T
NM_000520.5:c.1421+19G>T	NP_000511.2:n.1421+19G>T
NM_001318825.1:c.1454+19G>T	NP_001305754.1:n.1454+19G>T
NR_134869.1:n.1665+19G>T
NM_000520.6:c.1421+19G>T MANE Select	NP_000511.2:n.1421+19G>T
NM_001318825.2:c.1454+19G>T	NP_001305754.1:n.1454+19G>T
NR_134869.2:n.1206+19G>T
NR_134869.3:n.1206+19G>T