Canonical Allele Identifier: CA16041316

Linked Data

ClinVar Variation Id: 370270
ClinVar RCV Id: RCV000410389
dbSNP Id: rs1057516364
gnomAD v4: 9-36227267-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36227267A>G , CM000671.2:g.36227267A>G GRCh38
NC_000009.11:g.36227264A>G , CM000671.1:g.36227264A>G GRCh37
NC_000009.10:g.36217264A>G NCBI36
NG_008246.1:g.54778T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000396594.8:c.1355T>C (GNE) MANE Plus Clinical ENSP00000379839.3:p.Val452Ala
ENST00000543356.7:c.1085T>C (GNE) ENSP00000437765.3:p.Val362Ala
ENST00000642385.2:c.1262T>C (GNE) MANE Select ENSP00000494141.2:p.Val421Ala
ENST00000377902.5:c.1262T>C (GNE) ENSP00000367134.4:p.Val421Ala
ENST00000396594.7:c.1355T>C (GNE) ENSP00000379839.3:p.Val452Ala
ENST00000447283.6:c.1262T>C (GNE) ENSP00000414760.2:p.Val421Ala
ENST00000464497.5:c.485+23088A>G (CLTA) ENSP00000419158.1:n.485+23088A>G
ENST00000539208.5:c.932T>C (GNE) ENSP00000445117.1:p.Val311Ala
ENST00000539815.5:c.1262T>C (GNE) ENSP00000439155.1:p.Val421Ala
ENST00000543356.6:c.1247T>C (GNE) ENSP00000437765.2:p.Val416Ala
NM_001128227.2:c.1355T>C (GNE) NP_001121699.1:p.Val452Ala
NM_001190383.1:c.1262T>C (GNE) NP_001177312.1:p.Val421Ala
NM_001190384.1:c.932T>C (GNE) NP_001177313.1:p.Val311Ala
NM_001190388.1:c.1247T>C (GNE) NP_001177317.1:p.Val416Ala
NM_005476.5:c.1262T>C (GNE) NP_005467.1:p.Val421Ala
XM_005251334.3:c.1202T>C (GNE) XP_005251391.1:p.Val401Ala
NM_001190383.2:c.1262T>C (GNE) NP_001177312.1:p.Val421Ala
NM_001190384.2:c.932T>C (GNE) NP_001177313.1:p.Val311Ala
NM_005476.6:c.1262T>C (GNE) NP_005467.1:p.Val421Ala
XM_005251334.4:c.1202T>C (GNE) XP_005251391.1:p.Val401Ala
XM_017014167.1:c.1262T>C (GNE) XP_016869656.1:p.Val421Ala
XM_017014168.1:c.1109T>C (GNE) XP_016869657.1:p.Val370Ala
NM_001128227.3:c.1355T>C (GNE) MANE Plus Clinical NP_001121699.1:p.Val452Ala
NM_001190383.3:c.1262T>C (GNE) NP_001177312.1:p.Val421Ala
NM_001190384.3:c.932T>C (GNE) NP_001177313.1:p.Val311Ala
NM_001190388.2:c.1085T>C (GNE) NP_001177317.2:p.Val362Ala
NM_001374797.1:c.1109T>C (GNE) NP_001361726.1:p.Val370Ala
NM_001374798.1:c.1085T>C (GNE) NP_001361727.1:p.Val362Ala
NM_005476.7:c.1262T>C (GNE) MANE Select NP_005467.1:p.Val421Ala