Canonical Allele Identifier: CA373429943
Community Standard Title: NM_005476.7(GNE):c.1048C>T (p.Gln350Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36229043G>A , CM000671.2:g.36229043G>A GRCh38
NC_000009.11:g.36229040G>A , CM000671.1:g.36229040G>A GRCh37
NC_000009.10:g.36219040G>A NCBI36
NG_008246.1:g.53002C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005476.7:c.1048C>T (GNE) MANE Select NP_005467.1:p.Gln350Ter
ENST00000642385.2:c.1048C>T (GNE) MANE Select ENSP00000494141.2:p.Gln350Ter
NM_001128227.3:c.1141C>T (GNE) MANE Plus Clinical NP_001121699.1:p.Gln381Ter
ENST00000396594.8:c.1141C>T (GNE) MANE Plus Clinical ENSP00000379839.3:p.Gln381Ter
NM_001128227.2:c.1141C>T (GNE) NP_001121699.1:p.Gln381Ter
NM_001190383.1:c.1048C>T (GNE) NP_001177312.1:p.Gln350Ter
NM_001190383.2:c.1048C>T (GNE) NP_001177312.1:p.Gln350Ter
NM_001190383.3:c.1048C>T (GNE) NP_001177312.1:p.Gln350Ter
NM_001190384.1:c.718C>T (GNE) NP_001177313.1:p.Gln240Ter
NM_001190384.2:c.718C>T (GNE) NP_001177313.1:p.Gln240Ter
NM_001190384.3:c.718C>T (GNE) NP_001177313.1:p.Gln240Ter
NM_001190388.1:c.1033C>T (GNE) NP_001177317.1:p.Gln345Ter
NM_001190388.2:c.871C>T (GNE) NP_001177317.2:p.Gln291Ter
NM_001374797.1:c.895C>T (GNE) NP_001361726.1:p.Gln299Ter
NM_001374798.1:c.871C>T (GNE) NP_001361727.1:p.Gln291Ter
NM_005476.5:c.1048C>T (GNE) NP_005467.1:p.Gln350Ter
NM_005476.6:c.1048C>T (GNE) NP_005467.1:p.Gln350Ter
ENST00000377902.5:c.1048C>T (GNE) ENSP00000367134.4:p.Gln350Ter
ENST00000396594.7:c.1141C>T (GNE) ENSP00000379839.3:p.Gln381Ter
ENST00000447283.6:c.1048C>T (GNE) ENSP00000414760.2:p.Gln350Ter
ENST00000464497.5:c.485+24864G>A (CLTA) ENSP00000419158.1:n.485+24864G>A
ENST00000539208.5:c.718C>T (GNE) ENSP00000445117.1:p.Gln240Ter
ENST00000539815.5:c.1048C>T (GNE) ENSP00000439155.1:p.Gln350Ter
ENST00000543356.6:c.1033C>T (GNE) ENSP00000437765.2:p.Gln345Ter
ENST00000543356.7:c.871C>T (GNE) ENSP00000437765.3:p.Gln291Ter
XM_005251334.3:c.988C>T (GNE) XP_005251391.1:p.Gln330Ter
XM_005251334.4:c.988C>T (GNE) XP_005251391.1:p.Gln330Ter
XM_017014167.1:c.1048C>T (GNE) XP_016869656.1:p.Gln350Ter
XM_017014168.1:c.895C>T (GNE) XP_016869657.1:p.Gln299Ter