Canonical Allele Identifier: CA373425529
Community Standard Title: NM_005476.7(GNE):c.1787T>A (p.Leu596Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36219867A>T , CM000671.2:g.36219867A>T GRCh38
NC_000009.11:g.36219864A>T , CM000671.1:g.36219864A>T GRCh37
NC_000009.10:g.36209864A>T NCBI36
NG_008246.1:g.62178T>A

Transcript Alleles

HGVS Amino-acid Change
NM_005476.7:c.1787T>A (GNE) MANE Select NP_005467.1:p.Leu596Ter
ENST00000642385.2:c.1787T>A (GNE) MANE Select ENSP00000494141.2:p.Leu596Ter
NM_001128227.3:c.1880T>A (GNE) MANE Plus Clinical NP_001121699.1:p.Leu627Ter
ENST00000396594.8:c.1880T>A (GNE) MANE Plus Clinical ENSP00000379839.3:p.Leu627Ter
NM_001128227.2:c.1880T>A (GNE) NP_001121699.1:p.Leu627Ter
NM_001190383.1:c.1565T>A (GNE) NP_001177312.1:p.Leu522Ter
NM_001190383.2:c.1565T>A (GNE) NP_001177312.1:p.Leu522Ter
NM_001190383.3:c.1565T>A (GNE) NP_001177312.1:p.Leu522Ter
NM_001190384.1:c.1457T>A (GNE) NP_001177313.1:p.Leu486Ter
NM_001190384.2:c.1457T>A (GNE) NP_001177313.1:p.Leu486Ter
NM_001190384.3:c.1457T>A (GNE) NP_001177313.1:p.Leu486Ter
NM_001190388.1:c.1772T>A (GNE) NP_001177317.1:p.Leu591Ter
NM_001190388.2:c.1610T>A (GNE) NP_001177317.2:p.Leu537Ter
NM_001374797.1:c.1634T>A (GNE) NP_001361726.1:p.Leu545Ter
NM_001374798.1:c.1610T>A (GNE) NP_001361727.1:p.Leu537Ter
NM_005476.5:c.1787T>A (GNE) NP_005467.1:p.Leu596Ter
NM_005476.6:c.1787T>A (GNE) NP_005467.1:p.Leu596Ter
ENST00000377902.5:c.1787T>A (GNE) ENSP00000367134.4:p.Leu596Ter
ENST00000396594.7:c.1880T>A (GNE) ENSP00000379839.3:p.Leu627Ter
ENST00000447283.6:c.1565T>A (GNE) ENSP00000414760.2:p.Leu522Ter
ENST00000464497.5:c.485+15688A>T (CLTA) ENSP00000419158.1:n.485+15688A>T
ENST00000539208.5:c.1457T>A (GNE) ENSP00000445117.1:p.Leu486Ter
ENST00000539815.5:c.1787T>A (GNE) ENSP00000439155.1:p.Leu596Ter
ENST00000543356.6:c.1772T>A (GNE) ENSP00000437765.2:p.Leu591Ter
ENST00000543356.7:c.1610T>A (GNE) ENSP00000437765.3:p.Leu537Ter
XM_005251334.3:c.1727T>A (GNE) XP_005251391.1:p.Leu576Ter
XM_005251334.4:c.1727T>A (GNE) XP_005251391.1:p.Leu576Ter
XM_017014167.1:c.1787T>A (GNE) XP_016869656.1:p.Leu596Ter
XM_017014168.1:c.1634T>A (GNE) XP_016869657.1:p.Leu545Ter