Canonical Allele Identifier: CA373429993
Community Standard Title: NM_005476.7(GNE):c.1033C>T (p.Gln345Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36229058G>A , CM000671.2:g.36229058G>A GRCh38
NC_000009.11:g.36229055G>A , CM000671.1:g.36229055G>A GRCh37
NC_000009.10:g.36219055G>A NCBI36
NG_008246.1:g.52987C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005476.7:c.1033C>T (GNE) MANE Select NP_005467.1:p.Gln345Ter
ENST00000642385.2:c.1033C>T (GNE) MANE Select ENSP00000494141.2:p.Gln345Ter
NM_001128227.3:c.1126C>T (GNE) MANE Plus Clinical NP_001121699.1:p.Gln376Ter
ENST00000396594.8:c.1126C>T (GNE) MANE Plus Clinical ENSP00000379839.3:p.Gln376Ter
NM_001128227.2:c.1126C>T (GNE) NP_001121699.1:p.Gln376Ter
NM_001190383.1:c.1033C>T (GNE) NP_001177312.1:p.Gln345Ter
NM_001190383.2:c.1033C>T (GNE) NP_001177312.1:p.Gln345Ter
NM_001190383.3:c.1033C>T (GNE) NP_001177312.1:p.Gln345Ter
NM_001190384.1:c.703C>T (GNE) NP_001177313.1:p.Gln235Ter
NM_001190384.2:c.703C>T (GNE) NP_001177313.1:p.Gln235Ter
NM_001190384.3:c.703C>T (GNE) NP_001177313.1:p.Gln235Ter
NM_001190388.1:c.1018C>T (GNE) NP_001177317.1:p.Gln340Ter
NM_001190388.2:c.856C>T (GNE) NP_001177317.2:p.Gln286Ter
NM_001374797.1:c.880C>T (GNE) NP_001361726.1:p.Gln294Ter
NM_001374798.1:c.856C>T (GNE) NP_001361727.1:p.Gln286Ter
NM_005476.5:c.1033C>T (GNE) NP_005467.1:p.Gln345Ter
NM_005476.6:c.1033C>T (GNE) NP_005467.1:p.Gln345Ter
ENST00000377902.5:c.1033C>T (GNE) ENSP00000367134.4:p.Gln345Ter
ENST00000396594.7:c.1126C>T (GNE) ENSP00000379839.3:p.Gln376Ter
ENST00000447283.6:c.1033C>T (GNE) ENSP00000414760.2:p.Gln345Ter
ENST00000464497.5:c.485+24879G>A (CLTA) ENSP00000419158.1:n.485+24879G>A
ENST00000539208.5:c.703C>T (GNE) ENSP00000445117.1:p.Gln235Ter
ENST00000539815.5:c.1033C>T (GNE) ENSP00000439155.1:p.Gln345Ter
ENST00000543356.6:c.1018C>T (GNE) ENSP00000437765.2:p.Gln340Ter
ENST00000543356.7:c.856C>T (GNE) ENSP00000437765.3:p.Gln286Ter
XM_005251334.3:c.973C>T (GNE) XP_005251391.1:p.Gln325Ter
XM_005251334.4:c.973C>T (GNE) XP_005251391.1:p.Gln325Ter
XM_017014167.1:c.1033C>T (GNE) XP_016869656.1:p.Gln345Ter
XM_017014168.1:c.880C>T (GNE) XP_016869657.1:p.Gln294Ter