Canonical Allele Identifier: CA192839404
Community Standard Title: NM_005476.7(GNE):c.1945T>C (p.Leu649=)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36217589A>G , CM000671.2:g.36217589A>G GRCh38
NC_000009.11:g.36217586A>G , CM000671.1:g.36217586A>G GRCh37
NC_000009.10:g.36207586A>G NCBI36
NG_008246.1:g.64456T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005476.7:c.1945T>C (GNE) MANE Select NP_005467.1:p.Leu649=
ENST00000642385.2:c.1945T>C (GNE) MANE Select ENSP00000494141.2:p.Leu649=
NM_001128227.3:c.2038T>C (GNE) MANE Plus Clinical NP_001121699.1:p.Leu680=
ENST00000396594.8:c.2038T>C (GNE) MANE Plus Clinical ENSP00000379839.3:p.Leu680=
NM_001128227.2:c.2038T>C (GNE) NP_001121699.1:p.Leu680=
NM_001190383.1:c.1723T>C (GNE) NP_001177312.1:p.Leu575=
NM_001190383.2:c.1723T>C (GNE) NP_001177312.1:p.Leu575=
NM_001190383.3:c.1723T>C (GNE) NP_001177312.1:p.Leu575=
NM_001190384.1:c.1615T>C (GNE) NP_001177313.1:p.Leu539=
NM_001190384.2:c.1615T>C (GNE) NP_001177313.1:p.Leu539=
NM_001190384.3:c.1615T>C (GNE) NP_001177313.1:p.Leu539=
NM_001190388.1:c.1930T>C (GNE) NP_001177317.1:p.Leu644=
NM_001190388.2:c.1768T>C (GNE) NP_001177317.2:p.Leu590=
NM_001374797.1:c.1792T>C (GNE) NP_001361726.1:p.Leu598=
NM_001374798.1:c.1768T>C (GNE) NP_001361727.1:p.Leu590=
NM_005476.5:c.1945T>C (GNE) NP_005467.1:p.Leu649=
NM_005476.6:c.1945T>C (GNE) NP_005467.1:p.Leu649=
ENST00000377902.5:c.1945T>C (GNE) ENSP00000367134.4:p.Leu649=
ENST00000396594.7:c.2038T>C (GNE) ENSP00000379839.3:p.Leu680=
ENST00000447283.6:c.1723T>C (GNE) ENSP00000414760.2:p.Leu575=
ENST00000464497.5:c.485+13410A>G (CLTA) ENSP00000419158.1:n.485+13410A>G
ENST00000539208.5:c.1615T>C (GNE) ENSP00000445117.1:p.Leu539=
ENST00000539815.5:c.1945T>C (GNE) ENSP00000439155.1:p.Leu649=
ENST00000543356.6:c.1930T>C (GNE) ENSP00000437765.2:p.Leu644=
ENST00000543356.7:c.1768T>C (GNE) ENSP00000437765.3:p.Leu590=
XM_005251334.3:c.1885T>C (GNE) XP_005251391.1:p.Leu629=
XM_005251334.4:c.1885T>C (GNE) XP_005251391.1:p.Leu629=
XM_017014167.1:c.1945T>C (GNE) XP_016869656.1:p.Leu649=
XM_017014168.1:c.1792T>C (GNE) XP_016869657.1:p.Leu598=