Canonical Allele Identifier: CA393060692

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2168883
• ClinVar RCV Id: RCV003082791
• dbSNP Id: rs1595797170
• gnomAD v3: 15-72346587-G-A
• gnomAD v4: 15-72346587-G-A
• MyVariant Identifiers: chr15:g.72638928G>A (hg19) ; chr15:g.72346587G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346587G>A , CM000677.2:g.72346587G>A	GRCh38
NC_000015.9:g.72638928G>A , CM000677.1:g.72638928G>A	GRCh37
NC_000015.8:g.70425982G>A	NCBI36
NG_009017.1:g.34593C>T
NG_009017.2:g.34593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-262C>T	ENSP00000457521.2:n.1074-262C>T
ENST00000682061.1:c.*932C>T	ENSP00000508316.1:n.*932C>T
ENST00000682064.1:n.612C>T
ENST00000682177.1:c.1313C>T	ENSP00000507409.1:n.1313C>T
ENST00000682235.1:n.609C>T
ENST00000682461.1:c.1376C>T	ENSP00000507308.1:n.1376C>T
ENST00000682653.1:n.1590C>T
ENST00000682657.1:c.*484-262C>T	ENSP00000507753.1:n.*484-262C>T
ENST00000682721.1:c.*1073C>T	ENSP00000507535.1:n.*1073C>T
ENST00000682843.1:c.*972-262C>T	ENSP00000508173.1:n.*972-262C>T
ENST00000683003.1:c.*484-262C>T	ENSP00000507576.1:n.*484-262C>T
ENST00000683133.1:c.1454C>T	ENSP00000508108.1:n.1454C>T
ENST00000683243.1:c.*484-262C>T	ENSP00000507042.1:n.*484-262C>T
ENST00000683463.1:c.*75C>T	ENSP00000507986.1:n.*75C>T
ENST00000683548.1:n.1105-262C>T
ENST00000683579.1:c.*1168C>T	ENSP00000506867.1:n.*1168C>T
ENST00000683587.1:n.1178-262C>T
ENST00000683681.1:c.1270C>T	ENSP00000508110.1:p.Arg424Cys
ENST00000683735.1:c.*1045-262C>T	ENSP00000508336.1:n.*1045-262C>T
ENST00000683853.1:c.*75C>T	ENSP00000506834.1:n.*75C>T
ENST00000683860.1:c.1270C>T	ENSP00000507179.1:p.Arg424Cys
ENST00000683884.1:c.1147-262C>T	ENSP00000507004.1:n.1147-262C>T
ENST00000684041.1:c.1270C>T	ENSP00000508382.1:p.Arg424Cys
ENST00000684125.1:c.1074-262C>T	ENSP00000507320.1:n.1074-262C>T
ENST00000684203.1:n.3035C>T
ENST00000684231.1:c.*680C>T	ENSP00000507748.1:n.*680C>T
ENST00000684263.1:c.*210C>T	ENSP00000508369.1:n.*210C>T
ENST00000684305.1:c.1718C>T	ENSP00000506819.1:n.1718C>T
ENST00000684415.1:c.*137C>T	ENSP00000507227.1:n.*137C>T
ENST00000684520.1:c.1270C>T	ENSP00000506826.1:p.Arg424Cys
ENST00000684602.1:c.*936C>T	ENSP00000507996.1:n.*936C>T
ENST00000684667.1:c.1601C>T	ENSP00000507003.1:n.1601C>T
ENST00000268097.10:c.1270C>T MANE Select	ENSP00000268097.6:p.Arg424Cys
ENST00000268097.9:c.1270C>T	ENSP00000268097.5:p.Arg424Cys
ENST00000379915.4:c.413-262C>T	ENSP00000478716.1:n.413-262C>T
ENST00000563762.5:c.826-262C>T	ENSP00000456346.1:n.826-262C>T
ENST00000566304.5:c.1303C>T	ENSP00000455114.1:p.Arg435Cys
ENST00000566672.5:c.*680C>T	ENSP00000457037.1:n.*680C>T
ENST00000567027.5:c.946-262C>T
ENST00000567159.5:c.1270C>T	ENSP00000456489.1:p.Arg424Cys
ENST00000567411.5:c.*791C>T	ENSP00000455545.1:n.*791C>T
ENST00000568777.5:n.6551-262C>T
ENST00000569410.5:c.*75C>T	ENSP00000457125.1:n.*75C>T
NM_000520.4:c.1270C>T	NP_000511.2:p.Arg424Cys
NM_000520.5:c.1270C>T	NP_000511.2:p.Arg424Cys
NM_001318825.1:c.1303C>T	NP_001305754.1:p.Arg435Cys
NR_134869.1:n.1575-262C>T
NM_000520.6:c.1270C>T MANE Select	NP_000511.2:p.Arg424Cys
NM_001318825.2:c.1303C>T	NP_001305754.1:p.Arg435Cys
NR_134869.2:n.1116-262C>T
NR_134869.3:n.1116-262C>T