Canonical Allele Identifier: CA2186745660
Community Standard Title: NM_000520.6(HEXA):c.590A= (p.Lys197=)
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72351215T= , CM000677.2:g.72351215T= GRCh38
NC_000015.9:g.72643556T= , CM000677.1:g.72643556T= GRCh37
NC_000015.8:g.70430610T= NCBI36
NG_009017.1:g.29965A=
NG_009017.2:g.29965A=

Transcript Alleles

HGVS Amino-acid Change
NM_000520.6:c.590A= MANE Select NP_000511.2:p.Lys197=
ENST00000268097.10:c.590A= MANE Select ENSP00000268097.6:p.Lys197=
NM_000520.4:c.590A= NP_000511.2:p.Lys197=
NM_000520.5:c.590A= NP_000511.2:p.Lys197=
NM_001318825.1:c.623A= NP_001305754.1:p.Lys208=
NM_001318825.2:c.623A= NP_001305754.1:p.Lys208=
NR_134869.1:n.1091A=
NR_134869.2:n.632A=
NR_134869.3:n.632A=
ENST00000268097.9:c.590A= ENSP00000268097.5:p.Lys197=
ENST00000379915.4:c.412+4344A= ENSP00000478716.1:n.412+4344A=
ENST00000563762.5:c.523A= ENSP00000456346.1:n.523A=
ENST00000563908.2:n.2936A=
ENST00000566304.5:c.623A= ENSP00000455114.1:p.Lys208=
ENST00000566672.5:c.432A= ENSP00000457037.1:p.Ter144=
ENST00000567027.5:c.462A=
ENST00000567027.6:c.590A= ENSP00000457521.2:p.Lys197=
ENST00000567159.5:c.590A= ENSP00000456489.1:p.Lys197=
ENST00000567411.5:c.*111A= ENSP00000455545.1:n.*111A=
ENST00000568260.1:c.591A=
ENST00000568260.2:c.610A= ENSP00000458128.2:n.610A=
ENST00000568777.5:n.5994A=
ENST00000569410.5:c.590A= ENSP00000457125.1:p.Lys197=
ENST00000569509.5:n.437A=
ENST00000682061.1:c.*252A= ENSP00000508316.1:n.*252A=
ENST00000682177.1:c.590A= ENSP00000507409.1:p.Lys197=
ENST00000682461.1:c.696A= ENSP00000507308.1:n.696A=
ENST00000682653.1:n.621A=
ENST00000682657.1:c.273A= ENSP00000507753.1:p.Ter91=
ENST00000682721.1:c.*393A= ENSP00000507535.1:n.*393A=
ENST00000682843.1:c.*488A= ENSP00000508173.1:n.*488A=
ENST00000683003.1:c.432A= ENSP00000507576.1:p.Ter144=
ENST00000683133.1:c.774A= ENSP00000508108.1:n.774A=
ENST00000683228.1:n.621A=
ENST00000683243.1:c.432A= ENSP00000507042.1:p.Ter144=
ENST00000683463.1:c.590A= ENSP00000507986.1:p.Lys197=
ENST00000683548.1:n.621A=
ENST00000683579.1:c.*488A= ENSP00000506867.1:n.*488A=
ENST00000683587.1:n.621A=
ENST00000683681.1:c.590A= ENSP00000508110.1:p.Lys197=
ENST00000683735.1:c.*488A= ENSP00000508336.1:n.*488A=
ENST00000683742.1:n.421A=
ENST00000683853.1:c.590A= ENSP00000506834.1:p.Lys197=
ENST00000683860.1:c.590A= ENSP00000507179.1:p.Lys197=
ENST00000683884.1:c.590A= ENSP00000507004.1:p.Lys197=
ENST00000684041.1:c.590A= ENSP00000508382.1:p.Lys197=
ENST00000684125.1:c.590A= ENSP00000507320.1:p.Lys197=
ENST00000684203.1:n.2428A=
ENST00000684231.1:c.432A= ENSP00000507748.1:p.Ter144=
ENST00000684263.1:c.590A= ENSP00000508369.1:p.Lys197=
ENST00000684305.1:c.1038A= ENSP00000506819.1:n.1038A=
ENST00000684415.1:c.590A= ENSP00000507227.1:p.Lys197=
ENST00000684520.1:c.590A= ENSP00000506826.1:p.Lys197=
ENST00000684602.1:c.*256A= ENSP00000507996.1:n.*256A=
ENST00000684667.1:c.921A= ENSP00000507003.1:n.921A=