Canonical Allele Identifier: CA2186743579
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346319G= , CM000677.2:g.72346319G= GRCh38
NC_000015.9:g.72638660G= , CM000677.1:g.72638660G= GRCh37
NC_000015.8:g.70425714G= NCBI36
NG_009017.1:g.34861C=
NG_009017.2:g.34861C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1080C= ENSP00000457521.2:p.Pro360=
ENST00000682061.1:c.*999C= ENSP00000508316.1:n.*999C=
ENST00000682064.1:n.880C=
ENST00000682177.1:c.1380C= ENSP00000507409.1:n.1380C=
ENST00000682235.1:n.676C=
ENST00000682461.1:c.1443C= ENSP00000507308.1:n.1443C=
ENST00000682653.1:n.1657C=
ENST00000682657.1:c.*490C= ENSP00000507753.1:n.*490C=
ENST00000682721.1:c.*1140C= ENSP00000507535.1:n.*1140C=
ENST00000682843.1:c.*978C= ENSP00000508173.1:n.*978C=
ENST00000683003.1:c.*490C= ENSP00000507576.1:n.*490C=
ENST00000683133.1:c.1521C= ENSP00000508108.1:n.1521C=
ENST00000683243.1:c.*490C= ENSP00000507042.1:n.*490C=
ENST00000683463.1:c.*142C= ENSP00000507986.1:n.*142C=
ENST00000683548.1:n.1111C=
ENST00000683579.1:c.*1235C= ENSP00000506867.1:n.*1235C=
ENST00000683587.1:n.1184C=
ENST00000683681.1:c.1337C= ENSP00000508110.1:p.Pro446=
ENST00000683735.1:c.*1051C= ENSP00000508336.1:n.*1051C=
ENST00000683853.1:c.*142C= ENSP00000506834.1:n.*142C=
ENST00000683860.1:c.1337C= ENSP00000507179.1:p.Pro446=
ENST00000683884.1:c.1153C= ENSP00000507004.1:p.Leu385=
ENST00000684041.1:c.1337C= ENSP00000508382.1:p.Pro446=
ENST00000684125.1:c.1080C= ENSP00000507320.1:p.Pro360=
ENST00000684203.1:n.3102C=
ENST00000684231.1:c.*747C= ENSP00000507748.1:n.*747C=
ENST00000684263.1:c.*277C= ENSP00000508369.1:n.*277C=
ENST00000684305.1:c.1785C= ENSP00000506819.1:n.1785C=
ENST00000684415.1:c.*204C= ENSP00000507227.1:n.*204C=
ENST00000684520.1:c.1337C= ENSP00000506826.1:p.Pro446=
ENST00000684602.1:c.*1003C= ENSP00000507996.1:n.*1003C=
ENST00000684667.1:c.1668C= ENSP00000507003.1:n.1668C=
ENST00000268097.10:c.1337C= MANE Select ENSP00000268097.6:p.Pro446=
ENST00000268097.9:c.1337C= ENSP00000268097.5:p.Pro446=
ENST00000379915.4:c.419C= ENSP00000478716.1:p.Pro140=
ENST00000563762.5:c.832C= ENSP00000456346.1:n.832C=
ENST00000566304.5:c.1370C= ENSP00000455114.1:p.Pro457=
ENST00000566672.5:c.*747C= ENSP00000457037.1:n.*747C=
ENST00000567027.5:c.952C=
ENST00000567159.5:c.1337C= ENSP00000456489.1:p.Pro446=
ENST00000567411.5:c.*858C= ENSP00000455545.1:n.*858C=
ENST00000568777.5:n.6557C=
ENST00000569410.5:c.*142C= ENSP00000457125.1:n.*142C=
NM_000520.4:c.1337C= NP_000511.2:p.Pro446=
NM_000520.5:c.1337C= NP_000511.2:p.Pro446=
NM_001318825.1:c.1370C= NP_001305754.1:p.Pro457=
NR_134869.1:n.1581C=
NM_000520.6:c.1337C= MANE Select NP_000511.2:p.Pro446=
NM_001318825.2:c.1370C= NP_001305754.1:p.Pro457=
NR_134869.2:n.1122C=
NR_134869.3:n.1122C=