Canonical Allele Identifier: CA274932

Linked Data

ClinVar Variation Id: 6033
dbSNP Id: rs121908632
gnomAD v2: 9-36219937-C-G
gnomAD v3: 9-36219940-C-G
gnomAD v4: 9-36219940-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36219940C>G , CM000671.2:g.36219940C>G GRCh38
NC_000009.11:g.36219937C>G , CM000671.1:g.36219937C>G GRCh37
NC_000009.10:g.36209937C>G NCBI36
NG_008246.1:g.62105G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000396594.8:c.1807G>C (GNE) MANE Plus Clinical ENSP00000379839.3:p.Val603Leu
ENST00000543356.7:c.1537G>C (GNE) ENSP00000437765.3:p.Val513Leu
ENST00000642385.2:c.1714G>C (GNE) MANE Select ENSP00000494141.2:p.Val572Leu
ENST00000377902.5:c.1714G>C (GNE) ENSP00000367134.4:p.Val572Leu
ENST00000396594.7:c.1807G>C (GNE) ENSP00000379839.3:p.Val603Leu
ENST00000447283.6:c.1492G>C (GNE) ENSP00000414760.2:p.Val498Leu
ENST00000464497.5:c.485+15761C>G (CLTA) ENSP00000419158.1:n.485+15761C>G
ENST00000539208.5:c.1384G>C (GNE) ENSP00000445117.1:p.Val462Leu
ENST00000539815.5:c.1714G>C (GNE) ENSP00000439155.1:p.Val572Leu
ENST00000543356.6:c.1699G>C (GNE) ENSP00000437765.2:p.Val567Leu
NM_001128227.2:c.1807G>C (GNE) NP_001121699.1:p.Val603Leu
NM_001190383.1:c.1492G>C (GNE) NP_001177312.1:p.Val498Leu
NM_001190384.1:c.1384G>C (GNE) NP_001177313.1:p.Val462Leu
NM_001190388.1:c.1699G>C (GNE) NP_001177317.1:p.Val567Leu
NM_005476.5:c.1714G>C (GNE) NP_005467.1:p.Val572Leu
XM_005251334.3:c.1654G>C (GNE) XP_005251391.1:p.Val552Leu
NM_001190383.2:c.1492G>C (GNE) NP_001177312.1:p.Val498Leu
NM_001190384.2:c.1384G>C (GNE) NP_001177313.1:p.Val462Leu
NM_005476.6:c.1714G>C (GNE) NP_005467.1:p.Val572Leu
XM_005251334.4:c.1654G>C (GNE) XP_005251391.1:p.Val552Leu
XM_017014167.1:c.1714G>C (GNE) XP_016869656.1:p.Val572Leu
XM_017014168.1:c.1561G>C (GNE) XP_016869657.1:p.Val521Leu
NM_001128227.3:c.1807G>C (GNE) MANE Plus Clinical NP_001121699.1:p.Val603Leu
NM_001190383.3:c.1492G>C (GNE) NP_001177312.1:p.Val498Leu
NM_001190384.3:c.1384G>C (GNE) NP_001177313.1:p.Val462Leu
NM_001190388.2:c.1537G>C (GNE) NP_001177317.2:p.Val513Leu
NM_001374797.1:c.1561G>C (GNE) NP_001361726.1:p.Val521Leu
NM_001374798.1:c.1537G>C (GNE) NP_001361727.1:p.Val513Leu
NM_005476.7:c.1714G>C (GNE) MANE Select NP_005467.1:p.Val572Leu