Canonical Allele Identifier: CA5056715

Linked Data

ClinVar Variation Id: 913582
dbSNP Id: rs772597073
gnomAD v2: 9-36246114-C-T
gnomAD v3: 9-36246117-C-T
gnomAD v4: 9-36246117-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36246117C>T , CM000671.2:g.36246117C>T GRCh38
NC_000009.11:g.36246114C>T , CM000671.1:g.36246114C>T GRCh37
NC_000009.10:g.36236114C>T NCBI36
NG_008246.1:g.35928G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396594.8:c.623G>A (GNE) MANE Plus Clinical ENSP00000379839.3:p.Arg208His
ENST00000543356.7:c.353G>A (GNE) ENSP00000437765.3:p.Arg118His
ENST00000642385.2:c.530G>A (GNE) MANE Select ENSP00000494141.2:p.Arg177His
ENST00000377902.5:c.530G>A (GNE) ENSP00000367134.4:p.Arg177His
ENST00000396594.7:c.623G>A (GNE) ENSP00000379839.3:p.Arg208His
ENST00000447283.6:c.530G>A (GNE) ENSP00000414760.2:p.Arg177His
ENST00000464497.5:c.486-17081C>T (CLTA) ENSP00000419158.1:n.486-17081C>T
ENST00000539208.5:c.353G>A (GNE) ENSP00000445117.1:p.Arg118His
ENST00000539815.5:c.530G>A (GNE) ENSP00000439155.1:p.Arg177His
ENST00000543356.6:c.515G>A (GNE) ENSP00000437765.2:p.Arg172His
NM_001128227.2:c.623G>A (GNE) NP_001121699.1:p.Arg208His
NM_001190383.1:c.530G>A (GNE) NP_001177312.1:p.Arg177His
NM_001190384.1:c.353G>A (GNE) NP_001177313.1:p.Arg118His
NM_001190388.1:c.515G>A (GNE) NP_001177317.1:p.Arg172His
NM_005476.5:c.530G>A (GNE) NP_005467.1:p.Arg177His
XM_005251334.3:c.623G>A (GNE) XP_005251391.1:p.Arg208His
NM_001190383.2:c.530G>A (GNE) NP_001177312.1:p.Arg177His
NM_001190384.2:c.353G>A (GNE) NP_001177313.1:p.Arg118His
NM_005476.6:c.530G>A (GNE) NP_005467.1:p.Arg177His
XM_005251334.4:c.623G>A (GNE) XP_005251391.1:p.Arg208His
XM_017014167.1:c.530G>A (GNE) XP_016869656.1:p.Arg177His
XM_017014168.1:c.530G>A (GNE) XP_016869657.1:p.Arg177His
NM_001128227.3:c.623G>A (GNE) MANE Plus Clinical NP_001121699.1:p.Arg208His
NM_001190383.3:c.530G>A (GNE) NP_001177312.1:p.Arg177His
NM_001190384.3:c.353G>A (GNE) NP_001177313.1:p.Arg118His
NM_001190388.2:c.353G>A (GNE) NP_001177317.2:p.Arg118His
NM_001374797.1:c.530G>A (GNE) NP_001361726.1:p.Arg177His
NM_001374798.1:c.353G>A (GNE) NP_001361727.1:p.Arg118His
NM_005476.7:c.530G>A (GNE) MANE Select NP_005467.1:p.Arg177His