Canonical Allele Identifier: CA1846334702

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36223517A= , CM000671.2:g.36223517A= GRCh38
NC_000009.11:g.36223514A= , CM000671.1:g.36223514A= GRCh37
NC_000009.10:g.36213514A= NCBI36
NG_008246.1:g.58528T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000396594.8:c.1375-15T= (GNE) MANE Plus Clinical ENSP00000379839.3:n.1375-15T=
ENST00000543356.7:c.1105-15T= (GNE) ENSP00000437765.3:n.1105-15T=
ENST00000642385.2:c.1282-15T= (GNE) MANE Select ENSP00000494141.2:n.1282-15T=
ENST00000377902.5:c.1282-15T= (GNE) ENSP00000367134.4:n.1282-15T=
ENST00000396594.7:c.1375-15T= (GNE) ENSP00000379839.3:n.1375-15T=
ENST00000447283.6:c.1282-15T= (GNE) ENSP00000414760.2:n.1282-15T=
ENST00000464497.5:c.485+19338A= (CLTA) ENSP00000419158.1:n.485+19338A=
ENST00000539208.5:c.952-15T= (GNE) ENSP00000445117.1:n.952-15T=
ENST00000539815.5:c.1282-15T= (GNE) ENSP00000439155.1:n.1282-15T=
ENST00000543356.6:c.1267-15T= (GNE) ENSP00000437765.2:n.1267-15T=
NM_001128227.2:c.1375-15T= (GNE) NP_001121699.1:n.1375-15T=
NM_001190383.1:c.1282-15T= (GNE) NP_001177312.1:n.1282-15T=
NM_001190384.1:c.952-15T= (GNE) NP_001177313.1:n.952-15T=
NM_001190388.1:c.1267-15T= (GNE) NP_001177317.1:n.1267-15T=
NM_005476.5:c.1282-15T= (GNE) NP_005467.1:n.1282-15T=
XM_005251334.3:c.1222-15T= (GNE) XP_005251391.1:n.1222-15T=
NM_001190383.2:c.1282-15T= (GNE) NP_001177312.1:n.1282-15T=
NM_001190384.2:c.952-15T= (GNE) NP_001177313.1:n.952-15T=
NM_005476.6:c.1282-15T= (GNE) NP_005467.1:n.1282-15T=
XM_005251334.4:c.1222-15T= (GNE) XP_005251391.1:n.1222-15T=
XM_017014167.1:c.1282-15T= (GNE) XP_016869656.1:n.1282-15T=
XM_017014168.1:c.1129-15T= (GNE) XP_016869657.1:n.1129-15T=
NM_001128227.3:c.1375-15T= (GNE) MANE Plus Clinical NP_001121699.1:n.1375-15T=
NM_001190383.3:c.1282-15T= (GNE) NP_001177312.1:n.1282-15T=
NM_001190384.3:c.952-15T= (GNE) NP_001177313.1:n.952-15T=
NM_001190388.2:c.1105-15T= (GNE) NP_001177317.2:n.1105-15T=
NM_001374797.1:c.1129-15T= (GNE) NP_001361726.1:n.1129-15T=
NM_001374798.1:c.1105-15T= (GNE) NP_001361727.1:n.1105-15T=
NM_005476.7:c.1282-15T= (GNE) MANE Select NP_005467.1:n.1282-15T=