Canonical Allele Identifier: CA393058921
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345549G>C , CM000677.2:g.72345549G>C GRCh38
NC_000015.9:g.72637890G>C , CM000677.1:g.72637890G>C GRCh37
NC_000015.8:g.70424944G>C NCBI36
NG_009017.1:g.35631C>G
NG_009017.2:g.35631C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*83C>G ENSP00000457521.2:n.*83C>G
ENST00000682061.1:c.*1769C>G ENSP00000508316.1:n.*1769C>G
ENST00000682064.1:n.1650C>G
ENST00000682177.1:c.1466C>G ENSP00000507409.1:n.1466C>G
ENST00000682235.1:n.1446C>G
ENST00000682461.1:c.1529C>G ENSP00000507308.1:n.1529C>G
ENST00000682653.1:n.2427C>G
ENST00000682657.1:c.*1260C>G ENSP00000507753.1:n.*1260C>G
ENST00000682721.1:c.*1226C>G ENSP00000507535.1:n.*1226C>G
ENST00000682843.1:c.*1064C>G ENSP00000508173.1:n.*1064C>G
ENST00000683003.1:c.*1260C>G ENSP00000507576.1:n.*1260C>G
ENST00000683133.1:c.1607C>G ENSP00000508108.1:n.1607C>G
ENST00000683243.1:c.*576C>G ENSP00000507042.1:n.*576C>G
ENST00000683463.1:c.*912C>G ENSP00000507986.1:n.*912C>G
ENST00000683548.1:n.1881C>G
ENST00000683579.1:c.*1321C>G ENSP00000506867.1:n.*1321C>G
ENST00000683587.1:n.1954C>G
ENST00000683681.1:c.*101C>G ENSP00000508110.1:n.*101C>G
ENST00000683735.1:c.*1821C>G ENSP00000508336.1:n.*1821C>G
ENST00000683853.1:c.*228C>G ENSP00000506834.1:n.*228C>G
ENST00000683860.1:c.*543C>G ENSP00000507179.1:n.*543C>G
ENST00000683884.1:c.*750C>G ENSP00000507004.1:n.*750C>G
ENST00000684041.1:c.*556C>G ENSP00000508382.1:n.*556C>G
ENST00000684125.1:c.*83C>G ENSP00000507320.1:n.*83C>G
ENST00000684203.1:n.3872C>G
ENST00000684231.1:c.*833C>G ENSP00000507748.1:n.*833C>G
ENST00000684263.1:c.*1047C>G ENSP00000508369.1:n.*1047C>G
ENST00000684305.1:c.1871C>G ENSP00000506819.1:n.1871C>G
ENST00000684415.1:c.*974C>G ENSP00000507227.1:n.*974C>G
ENST00000684520.1:c.*682C>G ENSP00000506826.1:n.*682C>G
ENST00000684602.1:c.*1089C>G ENSP00000507996.1:n.*1089C>G
ENST00000684667.1:c.1754C>G ENSP00000507003.1:n.1754C>G
ENST00000268097.10:c.1423C>G MANE Select ENSP00000268097.6:p.Pro475Ala
ENST00000268097.9:c.1423C>G ENSP00000268097.5:p.Pro475Ala
ENST00000379915.4:c.505C>G ENSP00000478716.1:p.Pro169Ala
ENST00000564677.5:n.215C>G
ENST00000565873.1:n.334C>G
ENST00000566304.5:c.1456C>G ENSP00000455114.1:p.Pro486Ala
ENST00000567027.5:c.1038C>G
ENST00000567159.5:c.1423C>G ENSP00000456489.1:p.Pro475Ala
ENST00000567411.5:c.*944C>G ENSP00000455545.1:n.*944C>G
ENST00000568777.5:n.6643C>G
ENST00000569116.1:n.130C>G
NM_000520.4:c.1423C>G NP_000511.2:p.Pro475Ala
NM_000520.5:c.1423C>G NP_000511.2:p.Pro475Ala
NM_001318825.1:c.1456C>G NP_001305754.1:p.Pro486Ala
NR_134869.1:n.1667C>G
NM_000520.6:c.1423C>G MANE Select NP_000511.2:p.Pro475Ala
NM_001318825.2:c.1456C>G NP_001305754.1:p.Pro486Ala
NR_134869.2:n.1208C>G
NR_134869.3:n.1208C>G