Canonical Allele Identifier: CA2186743269
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345484G= , CM000677.2:g.72345484G= GRCh38
NC_000015.9:g.72637825G= , CM000677.1:g.72637825G= GRCh37
NC_000015.8:g.70424879G= NCBI36
NG_009017.1:g.35696C=
NG_009017.2:g.35696C=

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.*148C= ENSP00000457521.2:n.*148C=
ENST00000682061.1:c.*1834C= ENSP00000508316.1:n.*1834C=
ENST00000682064.1:n.1715C=
ENST00000682177.1:c.1531C= ENSP00000507409.1:n.1531C=
ENST00000682235.1:n.1511C=
ENST00000682461.1:c.1594C= ENSP00000507308.1:n.1594C=
ENST00000682653.1:n.2492C=
ENST00000682657.1:c.*1325C= ENSP00000507753.1:n.*1325C=
ENST00000682721.1:c.*1291C= ENSP00000507535.1:n.*1291C=
ENST00000682843.1:c.*1129C= ENSP00000508173.1:n.*1129C=
ENST00000683003.1:c.*1325C= ENSP00000507576.1:n.*1325C=
ENST00000683133.1:c.1672C= ENSP00000508108.1:n.1672C=
ENST00000683243.1:c.*641C= ENSP00000507042.1:n.*641C=
ENST00000683463.1:c.*977C= ENSP00000507986.1:n.*977C=
ENST00000683548.1:n.1946C=
ENST00000683579.1:c.*1386C= ENSP00000506867.1:n.*1386C=
ENST00000683587.1:n.2019C=
ENST00000683681.1:c.*166C= ENSP00000508110.1:n.*166C=
ENST00000683735.1:c.*1886C= ENSP00000508336.1:n.*1886C=
ENST00000683853.1:c.*293C= ENSP00000506834.1:n.*293C=
ENST00000683860.1:c.*608C= ENSP00000507179.1:n.*608C=
ENST00000683884.1:c.*815C= ENSP00000507004.1:n.*815C=
ENST00000684041.1:c.*621C= ENSP00000508382.1:n.*621C=
ENST00000684125.1:c.*148C= ENSP00000507320.1:n.*148C=
ENST00000684203.1:n.3937C=
ENST00000684231.1:c.*898C= ENSP00000507748.1:n.*898C=
ENST00000684263.1:c.*1112C= ENSP00000508369.1:n.*1112C=
ENST00000684305.1:c.1936C= ENSP00000506819.1:n.1936C=
ENST00000684415.1:c.*1039C= ENSP00000507227.1:n.*1039C=
ENST00000684520.1:c.*747C= ENSP00000506826.1:n.*747C=
ENST00000684602.1:c.*1154C= ENSP00000507996.1:n.*1154C=
ENST00000684667.1:c.1819C= ENSP00000507003.1:n.1819C=
ENST00000268097.10:c.1488C= MANE Select ENSP00000268097.6:p.Ala496=
ENST00000268097.9:c.1488C= ENSP00000268097.5:p.Ala496=
ENST00000379915.4:c.570C= ENSP00000478716.1:p.Ala190=
ENST00000564677.5:n.280C=
ENST00000565873.1:n.399C=
ENST00000566304.5:c.1521C= ENSP00000455114.1:p.Ala507=
ENST00000567027.5:c.1103C=
ENST00000567159.5:c.1488C= ENSP00000456489.1:p.Ala496=
ENST00000567411.5:c.*1009C= ENSP00000455545.1:n.*1009C=
ENST00000568777.5:n.6708C=
ENST00000569116.1:n.195C=
NM_000520.4:c.1488C= NP_000511.2:p.Ala496=
NM_000520.5:c.1488C= NP_000511.2:p.Ala496=
NM_001318825.1:c.1521C= NP_001305754.1:p.Ala507=
NR_134869.1:n.1732C=
NM_000520.6:c.1488C= MANE Select NP_000511.2:p.Ala496=
NM_001318825.2:c.1521C= NP_001305754.1:p.Ala507=
NR_134869.2:n.1273C=
NR_134869.3:n.1273C=