Canonical Allele Identifier: CA2186743169

Gene: HEXA

Linked Data

• dbSNP Id: rs1194941957
• gnomAD v4: 15-72345286-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345286G>C , CM000677.2:g.72345286G>C	GRCh38
NC_000015.9:g.72637627G>C , CM000677.1:g.72637627G>C	GRCh37
NC_000015.8:g.70424681G>C	NCBI36
NG_009017.1:g.35894C>G
NG_009017.2:g.35894C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*346C>G	ENSP00000457521.2:n.*346C>G
ENST00000682061.1:c.*2032C>G	ENSP00000508316.1:n.*2032C>G
ENST00000682064.1:n.1753+160C>G
ENST00000682177.1:c.1729C>G	ENSP00000507409.1:n.1729C>G
ENST00000682235.1:n.1549+160C>G
ENST00000682461.1:c.1632+160C>G	ENSP00000507308.1:n.1632+160C>G
ENST00000682653.1:n.2690C>G
ENST00000682657.1:c.*1523C>G	ENSP00000507753.1:n.*1523C>G
ENST00000682721.1:c.*1329+160C>G	ENSP00000507535.1:n.*1329+160C>G
ENST00000682843.1:c.*1167+160C>G	ENSP00000508173.1:n.*1167+160C>G
ENST00000683133.1:c.1710+160C>G	ENSP00000508108.1:n.1710+160C>G
ENST00000683243.1:c.*679+160C>G	ENSP00000507042.1:n.*679+160C>G
ENST00000683463.1:c.*1015+160C>G	ENSP00000507986.1:n.*1015+160C>G
ENST00000683548.1:n.1984+160C>G
ENST00000683579.1:c.*1424+160C>G	ENSP00000506867.1:n.*1424+160C>G
ENST00000683587.1:n.2057+160C>G
ENST00000683681.1:c.*204+160C>G	ENSP00000508110.1:n.*204+160C>G
ENST00000683735.1:c.*1924+160C>G	ENSP00000508336.1:n.*1924+160C>G
ENST00000683853.1:c.*491C>G	ENSP00000506834.1:n.*491C>G
ENST00000683860.1:c.*646+160C>G	ENSP00000507179.1:n.*646+160C>G
ENST00000683884.1:c.*1013C>G	ENSP00000507004.1:n.*1013C>G
ENST00000684125.1:c.*186+160C>G	ENSP00000507320.1:n.*186+160C>G
ENST00000684203.1:n.3975+160C>G
ENST00000684231.1:c.*936+160C>G	ENSP00000507748.1:n.*936+160C>G
ENST00000684263.1:c.*1150+160C>G	ENSP00000508369.1:n.*1150+160C>G
ENST00000684305.1:c.1974+160C>G	ENSP00000506819.1:n.1974+160C>G
ENST00000684415.1:c.*1237C>G	ENSP00000507227.1:n.*1237C>G
ENST00000684520.1:c.*945C>G	ENSP00000506826.1:n.*945C>G
ENST00000684602.1:c.*1192+160C>G	ENSP00000507996.1:n.*1192+160C>G
ENST00000684667.1:c.1857+160C>G	ENSP00000507003.1:n.1857+160C>G
ENST00000268097.10:c.1526+160C>G MANE Select	ENSP00000268097.6:n.1526+160C>G
ENST00000268097.9:c.1526+160C>G	ENSP00000268097.5:n.1526+160C>G
ENST00000379915.4:c.608+160C>G	ENSP00000478716.1:n.608+160C>G
ENST00000564677.5:n.318+160C>G
ENST00000565873.1:n.437+160C>G
ENST00000566304.5:c.1559+160C>G	ENSP00000455114.1:n.1559+160C>G
ENST00000567027.5:c.1301C>G
ENST00000567411.5:c.*1047+160C>G	ENSP00000455545.1:n.*1047+160C>G
ENST00000568777.5:n.6906C>G
ENST00000569116.1:n.393C>G
NM_000520.4:c.1526+160C>G	NP_000511.2:n.1526+160C>G
NM_000520.5:c.1526+160C>G	NP_000511.2:n.1526+160C>G
NM_001318825.1:c.1559+160C>G	NP_001305754.1:n.1559+160C>G
NR_134869.1:n.1930C>G
NM_000520.6:c.1526+160C>G MANE Select	NP_000511.2:n.1526+160C>G
NM_001318825.2:c.1559+160C>G	NP_001305754.1:n.1559+160C>G
NR_134869.2:n.1471C>G
NR_134869.3:n.1471C>G