Canonical Allele Identifier: CA10605885

Linked Data

ClinVar Variation Id: 287819
dbSNP Id: rs886043739
gnomAD v4: 9-36246318-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36246318T>C , CM000671.2:g.36246318T>C GRCh38
NC_000009.11:g.36246315T>C , CM000671.1:g.36246315T>C GRCh37
NC_000009.10:g.36236315T>C NCBI36
NG_008246.1:g.35727A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396594.8:c.422A>G (GNE) MANE Plus Clinical ENSP00000379839.3:p.His141Arg
ENST00000543356.7:c.152A>G (GNE) ENSP00000437765.3:p.His51Arg
ENST00000642385.2:c.329A>G (GNE) MANE Select ENSP00000494141.2:p.His110Arg
ENST00000377902.5:c.329A>G (GNE) ENSP00000367134.4:p.His110Arg
ENST00000396594.7:c.422A>G (GNE) ENSP00000379839.3:p.His141Arg
ENST00000447283.6:c.329A>G (GNE) ENSP00000414760.2:p.His110Arg
ENST00000464497.5:c.486-16880T>C (CLTA) ENSP00000419158.1:n.486-16880T>C
ENST00000539208.5:c.152A>G (GNE) ENSP00000445117.1:p.His51Arg
ENST00000539815.5:c.329A>G (GNE) ENSP00000439155.1:p.His110Arg
ENST00000543356.6:c.314A>G (GNE) ENSP00000437765.2:p.His105Arg
NM_001128227.2:c.422A>G (GNE) NP_001121699.1:p.His141Arg
NM_001190383.1:c.329A>G (GNE) NP_001177312.1:p.His110Arg
NM_001190384.1:c.152A>G (GNE) NP_001177313.1:p.His51Arg
NM_001190388.1:c.314A>G (GNE) NP_001177317.1:p.His105Arg
NM_005476.5:c.329A>G (GNE) NP_005467.1:p.His110Arg
XM_005251334.3:c.422A>G (GNE) XP_005251391.1:p.His141Arg
NM_001190383.2:c.329A>G (GNE) NP_001177312.1:p.His110Arg
NM_001190384.2:c.152A>G (GNE) NP_001177313.1:p.His51Arg
NM_005476.6:c.329A>G (GNE) NP_005467.1:p.His110Arg
XM_005251334.4:c.422A>G (GNE) XP_005251391.1:p.His141Arg
XM_017014167.1:c.329A>G (GNE) XP_016869656.1:p.His110Arg
XM_017014168.1:c.329A>G (GNE) XP_016869657.1:p.His110Arg
NM_001128227.3:c.422A>G (GNE) MANE Plus Clinical NP_001121699.1:p.His141Arg
NM_001190383.3:c.329A>G (GNE) NP_001177312.1:p.His110Arg
NM_001190384.3:c.152A>G (GNE) NP_001177313.1:p.His51Arg
NM_001190388.2:c.152A>G (GNE) NP_001177317.2:p.His51Arg
NM_001374797.1:c.329A>G (GNE) NP_001361726.1:p.His110Arg
NM_001374798.1:c.152A>G (GNE) NP_001361727.1:p.His51Arg
NM_005476.7:c.329A>G (GNE) MANE Select NP_005467.1:p.His110Arg