Canonical Allele Identifier: CA2186743299
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345548G= , CM000677.2:g.72345548G= GRCh38
NC_000015.9:g.72637889G= , CM000677.1:g.72637889G= GRCh37
NC_000015.8:g.70424943G= NCBI36
NG_009017.1:g.35632C=
NG_009017.2:g.35632C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*84C= ENSP00000457521.2:n.*84C=
ENST00000682061.1:c.*1770C= ENSP00000508316.1:n.*1770C=
ENST00000682064.1:n.1651C=
ENST00000682177.1:c.1467C= ENSP00000507409.1:n.1467C=
ENST00000682235.1:n.1447C=
ENST00000682461.1:c.1530C= ENSP00000507308.1:n.1530C=
ENST00000682653.1:n.2428C=
ENST00000682657.1:c.*1261C= ENSP00000507753.1:n.*1261C=
ENST00000682721.1:c.*1227C= ENSP00000507535.1:n.*1227C=
ENST00000682843.1:c.*1065C= ENSP00000508173.1:n.*1065C=
ENST00000683003.1:c.*1261C= ENSP00000507576.1:n.*1261C=
ENST00000683133.1:c.1608C= ENSP00000508108.1:n.1608C=
ENST00000683243.1:c.*577C= ENSP00000507042.1:n.*577C=
ENST00000683463.1:c.*913C= ENSP00000507986.1:n.*913C=
ENST00000683548.1:n.1882C=
ENST00000683579.1:c.*1322C= ENSP00000506867.1:n.*1322C=
ENST00000683587.1:n.1955C=
ENST00000683681.1:c.*102C= ENSP00000508110.1:n.*102C=
ENST00000683735.1:c.*1822C= ENSP00000508336.1:n.*1822C=
ENST00000683853.1:c.*229C= ENSP00000506834.1:n.*229C=
ENST00000683860.1:c.*544C= ENSP00000507179.1:n.*544C=
ENST00000683884.1:c.*751C= ENSP00000507004.1:n.*751C=
ENST00000684041.1:c.*557C= ENSP00000508382.1:n.*557C=
ENST00000684125.1:c.*84C= ENSP00000507320.1:n.*84C=
ENST00000684203.1:n.3873C=
ENST00000684231.1:c.*834C= ENSP00000507748.1:n.*834C=
ENST00000684263.1:c.*1048C= ENSP00000508369.1:n.*1048C=
ENST00000684305.1:c.1872C= ENSP00000506819.1:n.1872C=
ENST00000684415.1:c.*975C= ENSP00000507227.1:n.*975C=
ENST00000684520.1:c.*683C= ENSP00000506826.1:n.*683C=
ENST00000684602.1:c.*1090C= ENSP00000507996.1:n.*1090C=
ENST00000684667.1:c.1755C= ENSP00000507003.1:n.1755C=
ENST00000268097.10:c.1424C= MANE Select ENSP00000268097.6:p.Pro475=
ENST00000268097.9:c.1424C= ENSP00000268097.5:p.Pro475=
ENST00000379915.4:c.506C= ENSP00000478716.1:p.Pro169=
ENST00000564677.5:n.216C=
ENST00000565873.1:n.335C=
ENST00000566304.5:c.1457C= ENSP00000455114.1:p.Pro486=
ENST00000567027.5:c.1039C=
ENST00000567159.5:c.1424C= ENSP00000456489.1:p.Pro475=
ENST00000567411.5:c.*945C= ENSP00000455545.1:n.*945C=
ENST00000568777.5:n.6644C=
ENST00000569116.1:n.131C=
NM_000520.4:c.1424C= NP_000511.2:p.Pro475=
NM_000520.5:c.1424C= NP_000511.2:p.Pro475=
NM_001318825.1:c.1457C= NP_001305754.1:p.Pro486=
NR_134869.1:n.1668C=
NM_000520.6:c.1424C= MANE Select NP_000511.2:p.Pro475=
NM_001318825.2:c.1457C= NP_001305754.1:p.Pro486=
NR_134869.2:n.1209C=
NR_134869.3:n.1209C=