Canonical Allele Identifier: CA393058402

Gene: HEXA

Linked Data

• ClinVar Variation Id: 554357
• ClinVar RCV Id: RCV000669977
• dbSNP Id: rs1309204908
• MyVariant Identifiers: chr15:g.72637786C>A (hg19) ; chr15:g.72345445C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345445C>A , CM000677.2:g.72345445C>A	GRCh38
NC_000015.9:g.72637786C>A , CM000677.1:g.72637786C>A	GRCh37
NC_000015.8:g.70424840C>A	NCBI36
NG_009017.1:g.35735G>T
NG_009017.2:g.35735G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*187G>T	ENSP00000457521.2:n.*187G>T
ENST00000682061.1:c.*1873G>T	ENSP00000508316.1:n.*1873G>T
ENST00000682064.1:n.1753+1G>T
ENST00000682177.1:c.1570G>T	ENSP00000507409.1:n.1570G>T
ENST00000682235.1:n.1549+1G>T
ENST00000682461.1:c.1632+1G>T	ENSP00000507308.1:n.1632+1G>T
ENST00000682653.1:n.2531G>T
ENST00000682657.1:c.*1364G>T	ENSP00000507753.1:n.*1364G>T
ENST00000682721.1:c.*1329+1G>T	ENSP00000507535.1:n.*1329+1G>T
ENST00000682843.1:c.*1167+1G>T	ENSP00000508173.1:n.*1167+1G>T
ENST00000683003.1:c.*1364G>T	ENSP00000507576.1:n.*1364G>T
ENST00000683133.1:c.1710+1G>T	ENSP00000508108.1:n.1710+1G>T
ENST00000683243.1:c.*679+1G>T	ENSP00000507042.1:n.*679+1G>T
ENST00000683463.1:c.*1015+1G>T	ENSP00000507986.1:n.*1015+1G>T
ENST00000683548.1:n.1984+1G>T
ENST00000683579.1:c.*1424+1G>T	ENSP00000506867.1:n.*1424+1G>T
ENST00000683587.1:n.2057+1G>T
ENST00000683681.1:c.*204+1G>T	ENSP00000508110.1:n.*204+1G>T
ENST00000683735.1:c.*1924+1G>T	ENSP00000508336.1:n.*1924+1G>T
ENST00000683853.1:c.*332G>T	ENSP00000506834.1:n.*332G>T
ENST00000683860.1:c.*646+1G>T	ENSP00000507179.1:n.*646+1G>T
ENST00000683884.1:c.*854G>T	ENSP00000507004.1:n.*854G>T
ENST00000684125.1:c.*186+1G>T	ENSP00000507320.1:n.*186+1G>T
ENST00000684203.1:n.3975+1G>T
ENST00000684231.1:c.*936+1G>T	ENSP00000507748.1:n.*936+1G>T
ENST00000684263.1:c.*1150+1G>T	ENSP00000508369.1:n.*1150+1G>T
ENST00000684305.1:c.1974+1G>T	ENSP00000506819.1:n.1974+1G>T
ENST00000684415.1:c.*1078G>T	ENSP00000507227.1:n.*1078G>T
ENST00000684520.1:c.*786G>T	ENSP00000506826.1:n.*786G>T
ENST00000684602.1:c.*1192+1G>T	ENSP00000507996.1:n.*1192+1G>T
ENST00000684667.1:c.1857+1G>T	ENSP00000507003.1:n.1857+1G>T
ENST00000268097.10:c.1526+1G>T MANE Select	ENSP00000268097.6:n.1526+1G>T
ENST00000268097.9:c.1526+1G>T	ENSP00000268097.5:n.1526+1G>T
ENST00000379915.4:c.608+1G>T	ENSP00000478716.1:n.608+1G>T
ENST00000564677.5:n.318+1G>T
ENST00000565873.1:n.437+1G>T
ENST00000566304.5:c.1559+1G>T	ENSP00000455114.1:n.1559+1G>T
ENST00000567027.5:c.1142G>T
ENST00000567159.5:c.1527G>T	ENSP00000456489.1:p.Arg509Ser
ENST00000567411.5:c.*1047+1G>T	ENSP00000455545.1:n.*1047+1G>T
ENST00000568777.5:n.6747G>T
ENST00000569116.1:n.234G>T
NM_000520.4:c.1526+1G>T	NP_000511.2:n.1526+1G>T
NM_000520.5:c.1526+1G>T	NP_000511.2:n.1526+1G>T
NM_001318825.1:c.1559+1G>T	NP_001305754.1:n.1559+1G>T
NR_134869.1:n.1771G>T
NM_000520.6:c.1526+1G>T MANE Select	NP_000511.2:n.1526+1G>T
NM_001318825.2:c.1559+1G>T	NP_001305754.1:n.1559+1G>T
NR_134869.2:n.1312G>T
NR_134869.3:n.1312G>T