Canonical Allele Identifier: CA16041318

Linked Data

ClinVar Variation Id: 370285
dbSNP Id: rs1057516374
gnomAD v2: 9-36233983-G-A
gnomAD v3: 9-36233986-G-A
gnomAD v4: 9-36233986-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36233986G>A , CM000671.2:g.36233986G>A GRCh38
NC_000009.11:g.36233983G>A , CM000671.1:g.36233983G>A GRCh37
NC_000009.10:g.36223983G>A NCBI36
NG_008246.1:g.48059C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000396594.8:c.1009C>T (GNE) MANE Plus Clinical ENSP00000379839.3:p.Arg337Ter
ENST00000543356.7:c.739C>T (GNE) ENSP00000437765.3:p.Arg247Ter
ENST00000642385.2:c.916C>T (GNE) MANE Select ENSP00000494141.2:p.Arg306Ter
ENST00000377902.5:c.916C>T (GNE) ENSP00000367134.4:p.Arg306Ter
ENST00000396594.7:c.1009C>T (GNE) ENSP00000379839.3:p.Arg337Ter
ENST00000447283.6:c.916C>T (GNE) ENSP00000414760.2:p.Arg306Ter
ENST00000464497.5:c.486-29212G>A (CLTA) ENSP00000419158.1:n.486-29212G>A
ENST00000539208.5:c.586C>T (GNE) ENSP00000445117.1:p.Arg196Ter
ENST00000539815.5:c.916C>T (GNE) ENSP00000439155.1:p.Arg306Ter
ENST00000543356.6:c.901C>T (GNE) ENSP00000437765.2:p.Arg301Ter
NM_001128227.2:c.1009C>T (GNE) NP_001121699.1:p.Arg337Ter
NM_001190383.1:c.916C>T (GNE) NP_001177312.1:p.Arg306Ter
NM_001190384.1:c.586C>T (GNE) NP_001177313.1:p.Arg196Ter
NM_001190388.1:c.901C>T (GNE) NP_001177317.1:p.Arg301Ter
NM_005476.5:c.916C>T (GNE) NP_005467.1:p.Arg306Ter
XM_005251334.3:c.856C>T (GNE) XP_005251391.1:p.Arg286Ter
NM_001190383.2:c.916C>T (GNE) NP_001177312.1:p.Arg306Ter
NM_001190384.2:c.586C>T (GNE) NP_001177313.1:p.Arg196Ter
NM_005476.6:c.916C>T (GNE) NP_005467.1:p.Arg306Ter
XM_005251334.4:c.856C>T (GNE) XP_005251391.1:p.Arg286Ter
XM_017014167.1:c.916C>T (GNE) XP_016869656.1:p.Arg306Ter
XM_017014168.1:c.763C>T (GNE) XP_016869657.1:p.Arg255Ter
NM_001128227.3:c.1009C>T (GNE) MANE Plus Clinical NP_001121699.1:p.Arg337Ter
NM_001190383.3:c.916C>T (GNE) NP_001177312.1:p.Arg306Ter
NM_001190384.3:c.586C>T (GNE) NP_001177313.1:p.Arg196Ter
NM_001190388.2:c.739C>T (GNE) NP_001177317.2:p.Arg247Ter
NM_001374797.1:c.763C>T (GNE) NP_001361726.1:p.Arg255Ter
NM_001374798.1:c.739C>T (GNE) NP_001361727.1:p.Arg247Ter
NM_005476.7:c.916C>T (GNE) MANE Select NP_005467.1:p.Arg306Ter