Canonical Allele Identifier: CA715470492

Gene: HEXA

Linked Data

• dbSNP Id: rs1252221121
• gnomAD v4: 15-72345380-T-C
• MyVariant Identifiers: chr15:g.72637721T>C (hg19) ; chr15:g.72345380T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345380T>C , CM000677.2:g.72345380T>C	GRCh38
NC_000015.9:g.72637721T>C , CM000677.1:g.72637721T>C	GRCh37
NC_000015.8:g.70424775T>C	NCBI36
NG_009017.1:g.35800A>G
NG_009017.2:g.35800A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*252A>G	ENSP00000457521.2:n.*252A>G
ENST00000682061.1:c.*1938A>G	ENSP00000508316.1:n.*1938A>G
ENST00000682064.1:n.1753+66A>G
ENST00000682177.1:c.1635A>G	ENSP00000507409.1:n.1635A>G
ENST00000682235.1:n.1549+66A>G
ENST00000682461.1:c.1632+66A>G	ENSP00000507308.1:n.1632+66A>G
ENST00000682653.1:n.2596A>G
ENST00000682657.1:c.*1429A>G	ENSP00000507753.1:n.*1429A>G
ENST00000682721.1:c.*1329+66A>G	ENSP00000507535.1:n.*1329+66A>G
ENST00000682843.1:c.*1167+66A>G	ENSP00000508173.1:n.*1167+66A>G
ENST00000683003.1:c.*1429A>G	ENSP00000507576.1:n.*1429A>G
ENST00000683133.1:c.1710+66A>G	ENSP00000508108.1:n.1710+66A>G
ENST00000683243.1:c.*679+66A>G	ENSP00000507042.1:n.*679+66A>G
ENST00000683463.1:c.*1015+66A>G	ENSP00000507986.1:n.*1015+66A>G
ENST00000683548.1:n.1984+66A>G
ENST00000683579.1:c.*1424+66A>G	ENSP00000506867.1:n.*1424+66A>G
ENST00000683587.1:n.2057+66A>G
ENST00000683681.1:c.*204+66A>G	ENSP00000508110.1:n.*204+66A>G
ENST00000683735.1:c.*1924+66A>G	ENSP00000508336.1:n.*1924+66A>G
ENST00000683853.1:c.*397A>G	ENSP00000506834.1:n.*397A>G
ENST00000683860.1:c.*646+66A>G	ENSP00000507179.1:n.*646+66A>G
ENST00000683884.1:c.*919A>G	ENSP00000507004.1:n.*919A>G
ENST00000684125.1:c.*186+66A>G	ENSP00000507320.1:n.*186+66A>G
ENST00000684203.1:n.3975+66A>G
ENST00000684231.1:c.*936+66A>G	ENSP00000507748.1:n.*936+66A>G
ENST00000684263.1:c.*1150+66A>G	ENSP00000508369.1:n.*1150+66A>G
ENST00000684305.1:c.1974+66A>G	ENSP00000506819.1:n.1974+66A>G
ENST00000684415.1:c.*1143A>G	ENSP00000507227.1:n.*1143A>G
ENST00000684520.1:c.*851A>G	ENSP00000506826.1:n.*851A>G
ENST00000684602.1:c.*1192+66A>G	ENSP00000507996.1:n.*1192+66A>G
ENST00000684667.1:c.1857+66A>G	ENSP00000507003.1:n.1857+66A>G
ENST00000268097.10:c.1526+66A>G MANE Select	ENSP00000268097.6:n.1526+66A>G
ENST00000268097.9:c.1526+66A>G	ENSP00000268097.5:n.1526+66A>G
ENST00000379915.4:c.608+66A>G	ENSP00000478716.1:n.608+66A>G
ENST00000564677.5:n.318+66A>G
ENST00000565873.1:n.437+66A>G
ENST00000566304.5:c.1559+66A>G	ENSP00000455114.1:n.1559+66A>G
ENST00000567027.5:c.1207A>G
ENST00000567411.5:c.*1047+66A>G	ENSP00000455545.1:n.*1047+66A>G
ENST00000568777.5:n.6812A>G
ENST00000569116.1:n.299A>G
NM_000520.4:c.1526+66A>G	NP_000511.2:n.1526+66A>G
NM_000520.5:c.1526+66A>G	NP_000511.2:n.1526+66A>G
NM_001318825.1:c.1559+66A>G	NP_001305754.1:n.1559+66A>G
NR_134869.1:n.1836A>G
NM_000520.6:c.1526+66A>G MANE Select	NP_000511.2:n.1526+66A>G
NM_001318825.2:c.1559+66A>G	NP_001305754.1:n.1559+66A>G
NR_134869.2:n.1377A>G
NR_134869.3:n.1377A>G