Canonical Allele Identifier: CA2186745652
Community Standard Title: NM_000520.6(HEXA):c.611A= (p.His204=)
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72351194T= , CM000677.2:g.72351194T= GRCh38
NC_000015.9:g.72643535T= , CM000677.1:g.72643535T= GRCh37
NC_000015.8:g.70430589T= NCBI36
NG_009017.1:g.29986A=
NG_009017.2:g.29986A=

Transcript Alleles

HGVS Amino-acid Change
NM_000520.6:c.611A= MANE Select NP_000511.2:p.His204=
ENST00000268097.10:c.611A= MANE Select ENSP00000268097.6:p.His204=
NM_000520.4:c.611A= NP_000511.2:p.His204=
NM_000520.5:c.611A= NP_000511.2:p.His204=
NM_001318825.1:c.644A= NP_001305754.1:p.His215=
NM_001318825.2:c.644A= NP_001305754.1:p.His215=
NR_134869.1:n.1112A=
NR_134869.2:n.653A=
NR_134869.3:n.653A=
ENST00000268097.9:c.611A= ENSP00000268097.5:p.His204=
ENST00000379915.4:c.412+4365A= ENSP00000478716.1:n.412+4365A=
ENST00000563762.5:c.544A= ENSP00000456346.1:n.544A=
ENST00000563908.2:n.2957A=
ENST00000566304.5:c.644A= ENSP00000455114.1:p.His215=
ENST00000566672.5:c.*21A= ENSP00000457037.1:n.*21A=
ENST00000567027.5:c.483A=
ENST00000567027.6:c.611A= ENSP00000457521.2:p.His204=
ENST00000567159.5:c.611A= ENSP00000456489.1:p.His204=
ENST00000567411.5:c.*132A= ENSP00000455545.1:n.*132A=
ENST00000568260.1:c.612A=
ENST00000568260.2:c.631A= ENSP00000458128.2:n.631A=
ENST00000568777.5:n.6015A=
ENST00000569410.5:c.611A= ENSP00000457125.1:p.His204=
ENST00000569509.5:n.458A=
ENST00000682061.1:c.*273A= ENSP00000508316.1:n.*273A=
ENST00000682177.1:c.611A= ENSP00000507409.1:p.His204=
ENST00000682461.1:c.717A= ENSP00000507308.1:n.717A=
ENST00000682653.1:n.642A=
ENST00000682657.1:c.*21A= ENSP00000507753.1:n.*21A=
ENST00000682721.1:c.*414A= ENSP00000507535.1:n.*414A=
ENST00000682843.1:c.*509A= ENSP00000508173.1:n.*509A=
ENST00000683003.1:c.*21A= ENSP00000507576.1:n.*21A=
ENST00000683133.1:c.795A= ENSP00000508108.1:n.795A=
ENST00000683228.1:n.642A=
ENST00000683243.1:c.*21A= ENSP00000507042.1:n.*21A=
ENST00000683463.1:c.611A= ENSP00000507986.1:p.His204=
ENST00000683548.1:n.642A=
ENST00000683579.1:c.*509A= ENSP00000506867.1:n.*509A=
ENST00000683587.1:n.642A=
ENST00000683681.1:c.611A= ENSP00000508110.1:p.His204=
ENST00000683735.1:c.*509A= ENSP00000508336.1:n.*509A=
ENST00000683742.1:n.442A=
ENST00000683853.1:c.611A= ENSP00000506834.1:p.His204=
ENST00000683860.1:c.611A= ENSP00000507179.1:p.His204=
ENST00000683884.1:c.611A= ENSP00000507004.1:p.His204=
ENST00000684041.1:c.611A= ENSP00000508382.1:p.His204=
ENST00000684125.1:c.611A= ENSP00000507320.1:p.His204=
ENST00000684203.1:n.2449A=
ENST00000684231.1:c.*21A= ENSP00000507748.1:n.*21A=
ENST00000684263.1:c.611A= ENSP00000508369.1:p.His204=
ENST00000684305.1:c.1059A= ENSP00000506819.1:n.1059A=
ENST00000684415.1:c.611A= ENSP00000507227.1:p.His204=
ENST00000684520.1:c.611A= ENSP00000506826.1:p.His204=
ENST00000684602.1:c.*277A= ENSP00000507996.1:n.*277A=
ENST00000684667.1:c.942A= ENSP00000507003.1:n.942A=