Canonical Allele Identifier: CA491110989

Gene: HEXA

Linked Data

• dbSNP Id: rs1156279978
• gnomAD v2: 15-72637772-C-T
• gnomAD v4: 15-72345431-C-T
• MyVariant Identifiers: chr15:g.72637772C>T (hg19) ; chr15:g.72345431C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345431C>T , CM000677.2:g.72345431C>T	GRCh38
NC_000015.9:g.72637772C>T , CM000677.1:g.72637772C>T	GRCh37
NC_000015.8:g.70424826C>T	NCBI36
NG_009017.1:g.35749G>A
NG_009017.2:g.35749G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*201G>A	ENSP00000457521.2:n.*201G>A
ENST00000682061.1:c.*1887G>A	ENSP00000508316.1:n.*1887G>A
ENST00000682064.1:n.1753+15G>A
ENST00000682177.1:c.1584G>A	ENSP00000507409.1:n.1584G>A
ENST00000682235.1:n.1549+15G>A
ENST00000682461.1:c.1632+15G>A	ENSP00000507308.1:n.1632+15G>A
ENST00000682653.1:n.2545G>A
ENST00000682657.1:c.*1378G>A	ENSP00000507753.1:n.*1378G>A
ENST00000682721.1:c.*1329+15G>A	ENSP00000507535.1:n.*1329+15G>A
ENST00000682843.1:c.*1167+15G>A	ENSP00000508173.1:n.*1167+15G>A
ENST00000683003.1:c.*1378G>A	ENSP00000507576.1:n.*1378G>A
ENST00000683133.1:c.1710+15G>A	ENSP00000508108.1:n.1710+15G>A
ENST00000683243.1:c.*679+15G>A	ENSP00000507042.1:n.*679+15G>A
ENST00000683463.1:c.*1015+15G>A	ENSP00000507986.1:n.*1015+15G>A
ENST00000683548.1:n.1984+15G>A
ENST00000683579.1:c.*1424+15G>A	ENSP00000506867.1:n.*1424+15G>A
ENST00000683587.1:n.2057+15G>A
ENST00000683681.1:c.*204+15G>A	ENSP00000508110.1:n.*204+15G>A
ENST00000683735.1:c.*1924+15G>A	ENSP00000508336.1:n.*1924+15G>A
ENST00000683853.1:c.*346G>A	ENSP00000506834.1:n.*346G>A
ENST00000683860.1:c.*646+15G>A	ENSP00000507179.1:n.*646+15G>A
ENST00000683884.1:c.*868G>A	ENSP00000507004.1:n.*868G>A
ENST00000684125.1:c.*186+15G>A	ENSP00000507320.1:n.*186+15G>A
ENST00000684203.1:n.3975+15G>A
ENST00000684231.1:c.*936+15G>A	ENSP00000507748.1:n.*936+15G>A
ENST00000684263.1:c.*1150+15G>A	ENSP00000508369.1:n.*1150+15G>A
ENST00000684305.1:c.1974+15G>A	ENSP00000506819.1:n.1974+15G>A
ENST00000684415.1:c.*1092G>A	ENSP00000507227.1:n.*1092G>A
ENST00000684520.1:c.*800G>A	ENSP00000506826.1:n.*800G>A
ENST00000684602.1:c.*1192+15G>A	ENSP00000507996.1:n.*1192+15G>A
ENST00000684667.1:c.1857+15G>A	ENSP00000507003.1:n.1857+15G>A
ENST00000268097.10:c.1526+15G>A MANE Select	ENSP00000268097.6:n.1526+15G>A
ENST00000268097.9:c.1526+15G>A	ENSP00000268097.5:n.1526+15G>A
ENST00000379915.4:c.608+15G>A	ENSP00000478716.1:n.608+15G>A
ENST00000564677.5:n.318+15G>A
ENST00000565873.1:n.437+15G>A
ENST00000566304.5:c.1559+15G>A	ENSP00000455114.1:n.1559+15G>A
ENST00000567027.5:c.1156G>A
ENST00000567159.5:c.*11G>A	ENSP00000456489.1:n.*11G>A
ENST00000567411.5:c.*1047+15G>A	ENSP00000455545.1:n.*1047+15G>A
ENST00000568777.5:n.6761G>A
ENST00000569116.1:n.248G>A
NM_000520.4:c.1526+15G>A	NP_000511.2:n.1526+15G>A
NM_000520.5:c.1526+15G>A	NP_000511.2:n.1526+15G>A
NM_001318825.1:c.1559+15G>A	NP_001305754.1:n.1559+15G>A
NR_134869.1:n.1785G>A
NM_000520.6:c.1526+15G>A MANE Select	NP_000511.2:n.1526+15G>A
NM_001318825.2:c.1559+15G>A	NP_001305754.1:n.1559+15G>A
NR_134869.2:n.1326G>A
NR_134869.3:n.1326G>A