Canonical Allele Identifier: CA253703

Linked Data

ClinVar Variation Id: 6031
dbSNP Id: rs121908630
gnomAD v2: 9-36236925-C-T
gnomAD v3: 9-36236928-C-T
gnomAD v4: 9-36236928-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36236928C>T , CM000671.2:g.36236928C>T GRCh38
NC_000009.11:g.36236925C>T , CM000671.1:g.36236925C>T GRCh37
NC_000009.10:g.36226925C>T NCBI36
NG_008246.1:g.45117G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396594.8:c.766G>A (GNE) MANE Plus Clinical ENSP00000379839.3:p.Asp256Asn
ENST00000543356.7:c.496G>A (GNE) ENSP00000437765.3:p.Asp166Asn
ENST00000642385.2:c.673G>A (GNE) MANE Select ENSP00000494141.2:p.Asp225Asn
ENST00000377902.5:c.673G>A (GNE) ENSP00000367134.4:p.Asp225Asn
ENST00000396594.7:c.766G>A (GNE) ENSP00000379839.3:p.Asp256Asn
ENST00000447283.6:c.673G>A (GNE) ENSP00000414760.2:p.Asp225Asn
ENST00000464497.5:c.486-26270C>T (CLTA) ENSP00000419158.1:n.486-26270C>T
ENST00000539208.5:c.440-2796G>A (GNE) ENSP00000445117.1:n.440-2796G>A
ENST00000539815.5:c.673G>A (GNE) ENSP00000439155.1:p.Asp225Asn
ENST00000543356.6:c.658G>A (GNE) ENSP00000437765.2:p.Asp220Asn
NM_001128227.2:c.766G>A (GNE) NP_001121699.1:p.Asp256Asn
NM_001190383.1:c.673G>A (GNE) NP_001177312.1:p.Asp225Asn
NM_001190384.1:c.440-2796G>A (GNE) NP_001177313.1:n.440-2796G>A
NM_001190388.1:c.658G>A (GNE) NP_001177317.1:p.Asp220Asn
NM_005476.5:c.673G>A (GNE) NP_005467.1:p.Asp225Asn
XM_005251334.3:c.710-2796G>A (GNE) XP_005251391.1:n.710-2796G>A
NM_001190383.2:c.673G>A (GNE) NP_001177312.1:p.Asp225Asn
NM_001190384.2:c.440-2796G>A (GNE) NP_001177313.1:n.440-2796G>A
NM_005476.6:c.673G>A (GNE) NP_005467.1:p.Asp225Asn
XM_005251334.4:c.710-2796G>A (GNE) XP_005251391.1:n.710-2796G>A
XM_017014167.1:c.673G>A (GNE) XP_016869656.1:p.Asp225Asn
XM_017014168.1:c.617-2796G>A (GNE) XP_016869657.1:n.617-2796G>A
NM_001128227.3:c.766G>A (GNE) MANE Plus Clinical NP_001121699.1:p.Asp256Asn
NM_001190383.3:c.673G>A (GNE) NP_001177312.1:p.Asp225Asn
NM_001190384.3:c.440-2796G>A (GNE) NP_001177313.1:n.440-2796G>A
NM_001190388.2:c.496G>A (GNE) NP_001177317.2:p.Asp166Asn
NM_001374797.1:c.617-2796G>A (GNE) NP_001361726.1:n.617-2796G>A
NM_001374798.1:c.496G>A (GNE) NP_001361727.1:p.Asp166Asn
NM_005476.7:c.673G>A (GNE) MANE Select NP_005467.1:p.Asp225Asn