Canonical Allele Identifier: CA393058890
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345542G>C , CM000677.2:g.72345542G>C GRCh38
NC_000015.9:g.72637883G>C , CM000677.1:g.72637883G>C GRCh37
NC_000015.8:g.70424937G>C NCBI36
NG_009017.1:g.35638C>G
NG_009017.2:g.35638C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*90C>G ENSP00000457521.2:n.*90C>G
ENST00000682061.1:c.*1776C>G ENSP00000508316.1:n.*1776C>G
ENST00000682064.1:n.1657C>G
ENST00000682177.1:c.1473C>G ENSP00000507409.1:n.1473C>G
ENST00000682235.1:n.1453C>G
ENST00000682461.1:c.1536C>G ENSP00000507308.1:n.1536C>G
ENST00000682653.1:n.2434C>G
ENST00000682657.1:c.*1267C>G ENSP00000507753.1:n.*1267C>G
ENST00000682721.1:c.*1233C>G ENSP00000507535.1:n.*1233C>G
ENST00000682843.1:c.*1071C>G ENSP00000508173.1:n.*1071C>G
ENST00000683003.1:c.*1267C>G ENSP00000507576.1:n.*1267C>G
ENST00000683133.1:c.1614C>G ENSP00000508108.1:n.1614C>G
ENST00000683243.1:c.*583C>G ENSP00000507042.1:n.*583C>G
ENST00000683463.1:c.*919C>G ENSP00000507986.1:n.*919C>G
ENST00000683548.1:n.1888C>G
ENST00000683579.1:c.*1328C>G ENSP00000506867.1:n.*1328C>G
ENST00000683587.1:n.1961C>G
ENST00000683681.1:c.*108C>G ENSP00000508110.1:n.*108C>G
ENST00000683735.1:c.*1828C>G ENSP00000508336.1:n.*1828C>G
ENST00000683853.1:c.*235C>G ENSP00000506834.1:n.*235C>G
ENST00000683860.1:c.*550C>G ENSP00000507179.1:n.*550C>G
ENST00000683884.1:c.*757C>G ENSP00000507004.1:n.*757C>G
ENST00000684041.1:c.*563C>G ENSP00000508382.1:n.*563C>G
ENST00000684125.1:c.*90C>G ENSP00000507320.1:n.*90C>G
ENST00000684203.1:n.3879C>G
ENST00000684231.1:c.*840C>G ENSP00000507748.1:n.*840C>G
ENST00000684263.1:c.*1054C>G ENSP00000508369.1:n.*1054C>G
ENST00000684305.1:c.1878C>G ENSP00000506819.1:n.1878C>G
ENST00000684415.1:c.*981C>G ENSP00000507227.1:n.*981C>G
ENST00000684520.1:c.*689C>G ENSP00000506826.1:n.*689C>G
ENST00000684602.1:c.*1096C>G ENSP00000507996.1:n.*1096C>G
ENST00000684667.1:c.1761C>G ENSP00000507003.1:n.1761C>G
ENST00000268097.10:c.1430C>G MANE Select ENSP00000268097.6:p.Ala477Gly
ENST00000268097.9:c.1430C>G ENSP00000268097.5:p.Ala477Gly
ENST00000379915.4:c.512C>G ENSP00000478716.1:p.Ala171Gly
ENST00000564677.5:n.222C>G
ENST00000565873.1:n.341C>G
ENST00000566304.5:c.1463C>G ENSP00000455114.1:p.Ala488Gly
ENST00000567027.5:c.1045C>G
ENST00000567159.5:c.1430C>G ENSP00000456489.1:p.Ala477Gly
ENST00000567411.5:c.*951C>G ENSP00000455545.1:n.*951C>G
ENST00000568777.5:n.6650C>G
ENST00000569116.1:n.137C>G
NM_000520.4:c.1430C>G NP_000511.2:p.Ala477Gly
NM_000520.5:c.1430C>G NP_000511.2:p.Ala477Gly
NM_001318825.1:c.1463C>G NP_001305754.1:p.Ala488Gly
NR_134869.1:n.1674C>G
NM_000520.6:c.1430C>G MANE Select NP_000511.2:p.Ala477Gly
NM_001318825.2:c.1463C>G NP_001305754.1:p.Ala488Gly
NR_134869.2:n.1215C>G
NR_134869.3:n.1215C>G