Canonical Allele Identifier: CA373427953

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36223477T>A , CM000671.2:g.36223477T>A GRCh38
NC_000009.11:g.36223474T>A , CM000671.1:g.36223474T>A GRCh37
NC_000009.10:g.36213474T>A NCBI36
NG_008246.1:g.58568A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396594.8:c.1400A>T (GNE) MANE Plus Clinical ENSP00000379839.3:p.Gln467Leu
ENST00000543356.7:c.1130A>T (GNE) ENSP00000437765.3:p.Gln377Leu
ENST00000642385.2:c.1307A>T (GNE) MANE Select ENSP00000494141.2:p.Gln436Leu
ENST00000377902.5:c.1307A>T (GNE) ENSP00000367134.4:p.Gln436Leu
ENST00000396594.7:c.1400A>T (GNE) ENSP00000379839.3:p.Gln467Leu
ENST00000447283.6:c.1307A>T (GNE) ENSP00000414760.2:p.Gln436Leu
ENST00000464497.5:c.485+19298T>A (CLTA) ENSP00000419158.1:n.485+19298T>A
ENST00000539208.5:c.977A>T (GNE) ENSP00000445117.1:p.Gln326Leu
ENST00000539815.5:c.1307A>T (GNE) ENSP00000439155.1:p.Gln436Leu
ENST00000543356.6:c.1292A>T (GNE) ENSP00000437765.2:p.Gln431Leu
NM_001128227.2:c.1400A>T (GNE) NP_001121699.1:p.Gln467Leu
NM_001190383.1:c.1307A>T (GNE) NP_001177312.1:p.Gln436Leu
NM_001190384.1:c.977A>T (GNE) NP_001177313.1:p.Gln326Leu
NM_001190388.1:c.1292A>T (GNE) NP_001177317.1:p.Gln431Leu
NM_005476.5:c.1307A>T (GNE) NP_005467.1:p.Gln436Leu
XM_005251334.3:c.1247A>T (GNE) XP_005251391.1:p.Gln416Leu
NM_001190383.2:c.1307A>T (GNE) NP_001177312.1:p.Gln436Leu
NM_001190384.2:c.977A>T (GNE) NP_001177313.1:p.Gln326Leu
NM_005476.6:c.1307A>T (GNE) NP_005467.1:p.Gln436Leu
XM_005251334.4:c.1247A>T (GNE) XP_005251391.1:p.Gln416Leu
XM_017014167.1:c.1307A>T (GNE) XP_016869656.1:p.Gln436Leu
XM_017014168.1:c.1154A>T (GNE) XP_016869657.1:p.Gln385Leu
NM_001128227.3:c.1400A>T (GNE) MANE Plus Clinical NP_001121699.1:p.Gln467Leu
NM_001190383.3:c.1307A>T (GNE) NP_001177312.1:p.Gln436Leu
NM_001190384.3:c.977A>T (GNE) NP_001177313.1:p.Gln326Leu
NM_001190388.2:c.1130A>T (GNE) NP_001177317.2:p.Gln377Leu
NM_001374797.1:c.1154A>T (GNE) NP_001361726.1:p.Gln385Leu
NM_001374798.1:c.1130A>T (GNE) NP_001361727.1:p.Gln377Leu
NM_005476.7:c.1307A>T (GNE) MANE Select NP_005467.1:p.Gln436Leu