Canonical Allele Identifier: CA192854367
Community Standard Title: NC_000009.12:g.36276913G>A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36276913G>A , CM000671.2:g.36276913G>A GRCh38
NC_000009.11:g.36276910G>A , CM000671.1:g.36276910G>A GRCh37
NC_000009.10:g.36266910G>A NCBI36
NG_008246.1:g.5132C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001128227.3:c.32C>T (GNE) MANE Plus Clinical NP_001121699.1:p.Ser11Leu
ENST00000396594.8:c.32C>T (GNE) MANE Plus Clinical ENSP00000379839.3:p.Ser11Leu
NM_001128227.2:c.32C>T (GNE) NP_001121699.1:p.Ser11Leu
NM_001190388.1:c.130C>T (GNE) NP_001177317.1:p.His44Tyr
NM_001190388.2:c.-33C>T (GNE) NP_001177317.2:n.-33C>T
ENST00000396594.7:c.32C>T (GNE) ENSP00000379839.3:p.Ser11Leu
ENST00000464497.5:c.*101+11339G>A (CLTA) ENSP00000419158.1:n.*101+11339G>A
ENST00000543356.6:c.130C>T (GNE) ENSP00000437765.2:p.His44Tyr
ENST00000543356.7:c.-33C>T (GNE) ENSP00000437765.3:n.-33C>T
ENST00000644762.1:n.64C>T (GNE)
XM_005251334.3:c.32C>T (GNE) XP_005251391.1:p.Ser11Leu
XM_005251334.4:c.32C>T (GNE) XP_005251391.1:p.Ser11Leu
XR_001746655.1:n.255-11294G>A
XR_001746656.1:n.463-11294G>A
XR_001746657.1:n.255-11294G>A
XR_001746658.1:n.254+11339G>A
XR_001746659.1:n.255-11294G>A
XR_001746660.1:n.255-11294G>A
XR_001746661.1:n.255-11294G>A
XR_929584.1:n.462-11294G>A
XR_929585.1:n.659-11294G>A