Canonical Allele Identifier: CA1846355721

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36234105C= , CM000671.2:g.36234105C= GRCh38
NC_000009.11:g.36234102C= , CM000671.1:g.36234102C= GRCh37
NC_000009.10:g.36224102C= NCBI36
NG_008246.1:g.47940G=

Transcript Alleles

HGVS Amino-acid Change
NM_005476.7:c.797G= (GNE) MANE Select NP_005467.1:p.Arg266=
ENST00000642385.2:c.797G= (GNE) MANE Select ENSP00000494141.2:p.Arg266=
NM_001128227.3:c.890G= (GNE) MANE Plus Clinical NP_001121699.1:p.Arg297=
ENST00000396594.8:c.890G= (GNE) MANE Plus Clinical ENSP00000379839.3:p.Arg297=
NM_001128227.2:c.890G= (GNE) NP_001121699.1:p.Arg297=
NM_001190383.1:c.797G= (GNE) NP_001177312.1:p.Arg266=
NM_001190383.2:c.797G= (GNE) NP_001177312.1:p.Arg266=
NM_001190383.3:c.797G= (GNE) NP_001177312.1:p.Arg266=
NM_001190384.1:c.467G= (GNE) NP_001177313.1:p.Arg156=
NM_001190384.2:c.467G= (GNE) NP_001177313.1:p.Arg156=
NM_001190384.3:c.467G= (GNE) NP_001177313.1:p.Arg156=
NM_001190388.1:c.782G= (GNE) NP_001177317.1:p.Arg261=
NM_001190388.2:c.620G= (GNE) NP_001177317.2:p.Arg207=
NM_001374797.1:c.644G= (GNE) NP_001361726.1:p.Arg215=
NM_001374798.1:c.620G= (GNE) NP_001361727.1:p.Arg207=
NM_005476.5:c.797G= (GNE) NP_005467.1:p.Arg266=
NM_005476.6:c.797G= (GNE) NP_005467.1:p.Arg266=
ENST00000377902.5:c.797G= (GNE) ENSP00000367134.4:p.Arg266=
ENST00000396594.7:c.890G= (GNE) ENSP00000379839.3:p.Arg297=
ENST00000447283.6:c.797G= (GNE) ENSP00000414760.2:p.Arg266=
ENST00000464497.5:c.486-29093C= (CLTA) ENSP00000419158.1:n.486-29093C=
ENST00000539208.5:c.467G= (GNE) ENSP00000445117.1:p.Arg156=
ENST00000539815.5:c.797G= (GNE) ENSP00000439155.1:p.Arg266=
ENST00000543356.6:c.782G= (GNE) ENSP00000437765.2:p.Arg261=
ENST00000543356.7:c.620G= (GNE) ENSP00000437765.3:p.Arg207=
XM_005251334.3:c.737G= (GNE) XP_005251391.1:p.Arg246=
XM_005251334.4:c.737G= (GNE) XP_005251391.1:p.Arg246=
XM_017014167.1:c.797G= (GNE) XP_016869656.1:p.Arg266=
XM_017014168.1:c.644G= (GNE) XP_016869657.1:p.Arg215=