Canonical Allele Identifier: CA1846325453

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36218238A= , CM000671.2:g.36218238A= GRCh38
NC_000009.11:g.36218235A= , CM000671.1:g.36218235A= GRCh37
NC_000009.10:g.36208235A= NCBI36
NG_008246.1:g.63807T=

Transcript Alleles

HGVS Amino-acid change
ENST00000396594.8:c.1971T= (GNE) MANE Plus Clinical ENSP00000379839.3:p.His657=
ENST00000543356.7:c.1701T= (GNE) ENSP00000437765.3:p.His567=
ENST00000642385.2:c.1878T= (GNE) MANE Select ENSP00000494141.2:p.His626=
ENST00000377902.5:c.1878T= (GNE) ENSP00000367134.4:p.His626=
ENST00000396594.7:c.1971T= (GNE) ENSP00000379839.3:p.His657=
ENST00000447283.6:c.1656T= (GNE) ENSP00000414760.2:p.His552=
ENST00000464497.5:c.485+14059A= (CLTA) ENSP00000419158.1:n.485+14059A=
ENST00000539208.5:c.1548T= (GNE) ENSP00000445117.1:p.His516=
ENST00000539815.5:c.1878T= (GNE) ENSP00000439155.1:p.His626=
ENST00000543356.6:c.1863T= (GNE) ENSP00000437765.2:p.His621=
NM_001128227.2:c.1971T= (GNE) NP_001121699.1:p.His657=
NM_001190383.1:c.1656T= (GNE) NP_001177312.1:p.His552=
NM_001190384.1:c.1548T= (GNE) NP_001177313.1:p.His516=
NM_001190388.1:c.1863T= (GNE) NP_001177317.1:p.His621=
NM_005476.5:c.1878T= (GNE) NP_005467.1:p.His626=
XM_005251334.3:c.1818T= (GNE) XP_005251391.1:p.His606=
NM_001190383.2:c.1656T= (GNE) NP_001177312.1:p.His552=
NM_001190384.2:c.1548T= (GNE) NP_001177313.1:p.His516=
NM_005476.6:c.1878T= (GNE) NP_005467.1:p.His626=
XM_005251334.4:c.1818T= (GNE) XP_005251391.1:p.His606=
XM_017014167.1:c.1878T= (GNE) XP_016869656.1:p.His626=
XM_017014168.1:c.1725T= (GNE) XP_016869657.1:p.His575=
NM_001128227.3:c.1971T= (GNE) MANE Plus Clinical NP_001121699.1:p.His657=
NM_001190383.3:c.1656T= (GNE) NP_001177312.1:p.His552=
NM_001190384.3:c.1548T= (GNE) NP_001177313.1:p.His516=
NM_001190388.2:c.1701T= (GNE) NP_001177317.2:p.His567=
NM_001374797.1:c.1725T= (GNE) NP_001361726.1:p.His575=
NM_001374798.1:c.1701T= (GNE) NP_001361727.1:p.His567=
NM_005476.7:c.1878T= (GNE) MANE Select NP_005467.1:p.His626=