Canonical Allele Identifier: CA393058558
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345470G>C , CM000677.2:g.72345470G>C GRCh38
NC_000015.9:g.72637811G>C , CM000677.1:g.72637811G>C GRCh37
NC_000015.8:g.70424865G>C NCBI36
NG_009017.1:g.35710C>G
NG_009017.2:g.35710C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*162C>G ENSP00000457521.2:n.*162C>G
ENST00000682061.1:c.*1848C>G ENSP00000508316.1:n.*1848C>G
ENST00000682064.1:n.1729C>G
ENST00000682177.1:c.1545C>G ENSP00000507409.1:n.1545C>G
ENST00000682235.1:n.1525C>G
ENST00000682461.1:c.1608C>G ENSP00000507308.1:n.1608C>G
ENST00000682653.1:n.2506C>G
ENST00000682657.1:c.*1339C>G ENSP00000507753.1:n.*1339C>G
ENST00000682721.1:c.*1305C>G ENSP00000507535.1:n.*1305C>G
ENST00000682843.1:c.*1143C>G ENSP00000508173.1:n.*1143C>G
ENST00000683003.1:c.*1339C>G ENSP00000507576.1:n.*1339C>G
ENST00000683133.1:c.1686C>G ENSP00000508108.1:n.1686C>G
ENST00000683243.1:c.*655C>G ENSP00000507042.1:n.*655C>G
ENST00000683463.1:c.*991C>G ENSP00000507986.1:n.*991C>G
ENST00000683548.1:n.1960C>G
ENST00000683579.1:c.*1400C>G ENSP00000506867.1:n.*1400C>G
ENST00000683587.1:n.2033C>G
ENST00000683681.1:c.*180C>G ENSP00000508110.1:n.*180C>G
ENST00000683735.1:c.*1900C>G ENSP00000508336.1:n.*1900C>G
ENST00000683853.1:c.*307C>G ENSP00000506834.1:n.*307C>G
ENST00000683860.1:c.*622C>G ENSP00000507179.1:n.*622C>G
ENST00000683884.1:c.*829C>G ENSP00000507004.1:n.*829C>G
ENST00000684041.1:c.*635C>G ENSP00000508382.1:n.*635C>G
ENST00000684125.1:c.*162C>G ENSP00000507320.1:n.*162C>G
ENST00000684203.1:n.3951C>G
ENST00000684231.1:c.*912C>G ENSP00000507748.1:n.*912C>G
ENST00000684263.1:c.*1126C>G ENSP00000508369.1:n.*1126C>G
ENST00000684305.1:c.1950C>G ENSP00000506819.1:n.1950C>G
ENST00000684415.1:c.*1053C>G ENSP00000507227.1:n.*1053C>G
ENST00000684520.1:c.*761C>G ENSP00000506826.1:n.*761C>G
ENST00000684602.1:c.*1168C>G ENSP00000507996.1:n.*1168C>G
ENST00000684667.1:c.1833C>G ENSP00000507003.1:n.1833C>G
ENST00000268097.10:c.1502C>G MANE Select ENSP00000268097.6:p.Ser501Ter
ENST00000268097.9:c.1502C>G ENSP00000268097.5:p.Ser501Ter
ENST00000379915.4:c.584C>G ENSP00000478716.1:p.Ser195Ter
ENST00000564677.5:n.294C>G
ENST00000565873.1:n.413C>G
ENST00000566304.5:c.1535C>G ENSP00000455114.1:p.Ser512Ter
ENST00000567027.5:c.1117C>G
ENST00000567159.5:c.1502C>G ENSP00000456489.1:p.Ser501Ter
ENST00000567411.5:c.*1023C>G ENSP00000455545.1:n.*1023C>G
ENST00000568777.5:n.6722C>G
ENST00000569116.1:n.209C>G
NM_000520.4:c.1502C>G NP_000511.2:p.Ser501Ter
NM_000520.5:c.1502C>G NP_000511.2:p.Ser501Ter
NM_001318825.1:c.1535C>G NP_001305754.1:p.Ser512Ter
NR_134869.1:n.1746C>G
NM_000520.6:c.1502C>G MANE Select NP_000511.2:p.Ser501Ter
NM_001318825.2:c.1535C>G NP_001305754.1:p.Ser512Ter
NR_134869.2:n.1287C>G
NR_134869.3:n.1287C>G