Canonical Allele Identifier: CA3212402730
Community Standard Title: NM_000520.6(HEXA):c.1349C= (p.Ala450=)
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346307G= , CM000677.2:g.72346307G= GRCh38
NC_000015.9:g.72638648G= , CM000677.1:g.72638648G= GRCh37
NC_000015.8:g.70425702G= NCBI36
NG_009017.1:g.34873C=
NG_009017.2:g.34873C=

Transcript Alleles

HGVS Amino-acid Change
NM_000520.6:c.1349C= MANE Select NP_000511.2:p.Ala450=
ENST00000268097.10:c.1349C= MANE Select ENSP00000268097.6:p.Ala450=
NM_000520.4:c.1349C= NP_000511.2:p.Ala450=
NM_000520.5:c.1349C= NP_000511.2:p.Ala450=
NM_001318825.1:c.1382C= NP_001305754.1:p.Ala461=
NM_001318825.2:c.1382C= NP_001305754.1:p.Ala461=
NR_134869.1:n.1593C=
NR_134869.2:n.1134C=
NR_134869.3:n.1134C=
ENST00000268097.9:c.1349C= ENSP00000268097.5:p.Ala450=
ENST00000379915.4:c.431C= ENSP00000478716.1:p.Ala144=
ENST00000563762.5:c.844C= ENSP00000456346.1:n.844C=
ENST00000566304.5:c.1382C= ENSP00000455114.1:p.Ala461=
ENST00000566672.5:c.*759C= ENSP00000457037.1:n.*759C=
ENST00000567027.5:c.964C=
ENST00000567027.6:c.*9C= ENSP00000457521.2:n.*9C=
ENST00000567159.5:c.1349C= ENSP00000456489.1:p.Ala450=
ENST00000567411.5:c.*870C= ENSP00000455545.1:n.*870C=
ENST00000568777.5:n.6569C=
ENST00000569410.5:c.*154C= ENSP00000457125.1:n.*154C=
ENST00000682061.1:c.*1011C= ENSP00000508316.1:n.*1011C=
ENST00000682064.1:n.892C=
ENST00000682177.1:c.1392C= ENSP00000507409.1:n.1392C=
ENST00000682235.1:n.688C=
ENST00000682461.1:c.1455C= ENSP00000507308.1:n.1455C=
ENST00000682653.1:n.1669C=
ENST00000682657.1:c.*502C= ENSP00000507753.1:n.*502C=
ENST00000682721.1:c.*1152C= ENSP00000507535.1:n.*1152C=
ENST00000682843.1:c.*990C= ENSP00000508173.1:n.*990C=
ENST00000683003.1:c.*502C= ENSP00000507576.1:n.*502C=
ENST00000683133.1:c.1533C= ENSP00000508108.1:n.1533C=
ENST00000683243.1:c.*502C= ENSP00000507042.1:n.*502C=
ENST00000683463.1:c.*154C= ENSP00000507986.1:n.*154C=
ENST00000683548.1:n.1123C=
ENST00000683579.1:c.*1247C= ENSP00000506867.1:n.*1247C=
ENST00000683587.1:n.1196C=
ENST00000683681.1:c.1349C= ENSP00000508110.1:p.Ala450=
ENST00000683735.1:c.*1063C= ENSP00000508336.1:n.*1063C=
ENST00000683853.1:c.*154C= ENSP00000506834.1:n.*154C=
ENST00000683860.1:c.1349C= ENSP00000507179.1:p.Ala450=
ENST00000683884.1:c.1165C= ENSP00000507004.1:p.Leu389=
ENST00000684041.1:c.1349C= ENSP00000508382.1:p.Ala450=
ENST00000684125.1:c.*9C= ENSP00000507320.1:n.*9C=
ENST00000684203.1:n.3114C=
ENST00000684231.1:c.*759C= ENSP00000507748.1:n.*759C=
ENST00000684263.1:c.*289C= ENSP00000508369.1:n.*289C=
ENST00000684305.1:c.1797C= ENSP00000506819.1:n.1797C=
ENST00000684415.1:c.*216C= ENSP00000507227.1:n.*216C=
ENST00000684520.1:c.1349C= ENSP00000506826.1:p.Ala450=
ENST00000684602.1:c.*1015C= ENSP00000507996.1:n.*1015C=
ENST00000684667.1:c.1680C= ENSP00000507003.1:n.1680C=