Canonical Allele Identifier: CA373426927

Linked Data

ClinVar Variation Id: 943792
ClinVar RCV Id: RCV001214057
dbSNP Id: rs1828675355

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36222983C>A , CM000671.2:g.36222983C>A GRCh38
NC_000009.11:g.36222980C>A , CM000671.1:g.36222980C>A GRCh37
NC_000009.10:g.36212980C>A NCBI36
NG_008246.1:g.59062G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396594.8:c.1520G>T (GNE) MANE Plus Clinical ENSP00000379839.3:p.Gly507Val
ENST00000543356.7:c.1250G>T (GNE) ENSP00000437765.3:p.Gly417Val
ENST00000642385.2:c.1427G>T (GNE) MANE Select ENSP00000494141.2:p.Gly476Val
ENST00000377902.5:c.1427G>T (GNE) ENSP00000367134.4:p.Gly476Val
ENST00000396594.7:c.1520G>T (GNE) ENSP00000379839.3:p.Gly507Val
ENST00000447283.6:c.1411+390G>T (GNE) ENSP00000414760.2:n.1411+390G>T
ENST00000464497.5:c.485+18804C>A (CLTA) ENSP00000419158.1:n.485+18804C>A
ENST00000539208.5:c.1097G>T (GNE) ENSP00000445117.1:p.Gly366Val
ENST00000539815.5:c.1427G>T (GNE) ENSP00000439155.1:p.Gly476Val
ENST00000543356.6:c.1412G>T (GNE) ENSP00000437765.2:p.Gly471Val
NM_001128227.2:c.1520G>T (GNE) NP_001121699.1:p.Gly507Val
NM_001190383.1:c.1411+390G>T (GNE) NP_001177312.1:n.1411+390G>T
NM_001190384.1:c.1097G>T (GNE) NP_001177313.1:p.Gly366Val
NM_001190388.1:c.1412G>T (GNE) NP_001177317.1:p.Gly471Val
NM_005476.5:c.1427G>T (GNE) NP_005467.1:p.Gly476Val
XM_005251334.3:c.1367G>T (GNE) XP_005251391.1:p.Gly456Val
NM_001190383.2:c.1411+390G>T (GNE) NP_001177312.1:n.1411+390G>T
NM_001190384.2:c.1097G>T (GNE) NP_001177313.1:p.Gly366Val
NM_005476.6:c.1427G>T (GNE) NP_005467.1:p.Gly476Val
XM_005251334.4:c.1367G>T (GNE) XP_005251391.1:p.Gly456Val
XM_017014167.1:c.1427G>T (GNE) XP_016869656.1:p.Gly476Val
XM_017014168.1:c.1274G>T (GNE) XP_016869657.1:p.Gly425Val
NM_001128227.3:c.1520G>T (GNE) MANE Plus Clinical NP_001121699.1:p.Gly507Val
NM_001190383.3:c.1411+390G>T (GNE) NP_001177312.1:n.1411+390G>T
NM_001190384.3:c.1097G>T (GNE) NP_001177313.1:p.Gly366Val
NM_001190388.2:c.1250G>T (GNE) NP_001177317.2:p.Gly417Val
NM_001374797.1:c.1274G>T (GNE) NP_001361726.1:p.Gly425Val
NM_001374798.1:c.1250G>T (GNE) NP_001361727.1:p.Gly417Val
NM_005476.7:c.1427G>T (GNE) MANE Select NP_005467.1:p.Gly476Val