Canonical Allele Identifier: CA373430506
Community Standard Title: NM_005476.7(GNE):c.955G>T (p.Gly319Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36233947C>A , CM000671.2:g.36233947C>A GRCh38
NC_000009.11:g.36233944C>A , CM000671.1:g.36233944C>A GRCh37
NC_000009.10:g.36223944C>A NCBI36
NG_008246.1:g.48098G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005476.7:c.955G>T (GNE) MANE Select NP_005467.1:p.Gly319Ter
ENST00000642385.2:c.955G>T (GNE) MANE Select ENSP00000494141.2:p.Gly319Ter
NM_001128227.3:c.1048G>T (GNE) MANE Plus Clinical NP_001121699.1:p.Gly350Ter
ENST00000396594.8:c.1048G>T (GNE) MANE Plus Clinical ENSP00000379839.3:p.Gly350Ter
NM_001128227.2:c.1048G>T (GNE) NP_001121699.1:p.Gly350Ter
NM_001190383.1:c.955G>T (GNE) NP_001177312.1:p.Gly319Ter
NM_001190383.2:c.955G>T (GNE) NP_001177312.1:p.Gly319Ter
NM_001190383.3:c.955G>T (GNE) NP_001177312.1:p.Gly319Ter
NM_001190384.1:c.625G>T (GNE) NP_001177313.1:p.Gly209Ter
NM_001190384.2:c.625G>T (GNE) NP_001177313.1:p.Gly209Ter
NM_001190384.3:c.625G>T (GNE) NP_001177313.1:p.Gly209Ter
NM_001190388.1:c.940G>T (GNE) NP_001177317.1:p.Gly314Ter
NM_001190388.2:c.778G>T (GNE) NP_001177317.2:p.Gly260Ter
NM_001374797.1:c.802G>T (GNE) NP_001361726.1:p.Gly268Ter
NM_001374798.1:c.778G>T (GNE) NP_001361727.1:p.Gly260Ter
NM_005476.5:c.955G>T (GNE) NP_005467.1:p.Gly319Ter
NM_005476.6:c.955G>T (GNE) NP_005467.1:p.Gly319Ter
ENST00000377902.5:c.955G>T (GNE) ENSP00000367134.4:p.Gly319Ter
ENST00000396594.7:c.1048G>T (GNE) ENSP00000379839.3:p.Gly350Ter
ENST00000447283.6:c.955G>T (GNE) ENSP00000414760.2:p.Gly319Ter
ENST00000464497.5:c.486-29251C>A (CLTA) ENSP00000419158.1:n.486-29251C>A
ENST00000539208.5:c.625G>T (GNE) ENSP00000445117.1:p.Gly209Ter
ENST00000539815.5:c.955G>T (GNE) ENSP00000439155.1:p.Gly319Ter
ENST00000543356.6:c.940G>T (GNE) ENSP00000437765.2:p.Gly314Ter
ENST00000543356.7:c.778G>T (GNE) ENSP00000437765.3:p.Gly260Ter
XM_005251334.3:c.895G>T (GNE) XP_005251391.1:p.Gly299Ter
XM_005251334.4:c.895G>T (GNE) XP_005251391.1:p.Gly299Ter
XM_017014167.1:c.955G>T (GNE) XP_016869656.1:p.Gly319Ter
XM_017014168.1:c.802G>T (GNE) XP_016869657.1:p.Gly268Ter