Canonical Allele Identifier: CA5056834
Community Standard Title: NC_000009.12:g.36276930A>G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36276930A>G , CM000671.2:g.36276930A>G GRCh38
NC_000009.11:g.36276927A>G , CM000671.1:g.36276927A>G GRCh37
NC_000009.10:g.36266927A>G NCBI36
NG_008246.1:g.5115T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001128227.3:c.15T>C (GNE) MANE Plus Clinical NP_001121699.1:p.Gly5=
ENST00000396594.8:c.15T>C (GNE) MANE Plus Clinical ENSP00000379839.3:p.Gly5=
NM_001128227.2:c.15T>C (GNE) NP_001121699.1:p.Gly5=
NM_001190388.1:c.113T>C (GNE) NP_001177317.1:p.Val38Ala
NM_001190388.2:c.-50T>C (GNE) NP_001177317.2:n.-50T>C
ENST00000396594.7:c.15T>C (GNE) ENSP00000379839.3:p.Gly5=
ENST00000464497.5:c.*101+11356A>G (CLTA) ENSP00000419158.1:n.*101+11356A>G
ENST00000543356.6:c.113T>C (GNE) ENSP00000437765.2:p.Val38Ala
ENST00000543356.7:c.-50T>C (GNE) ENSP00000437765.3:n.-50T>C
ENST00000644762.1:n.47T>C (GNE)
XM_005251334.3:c.15T>C (GNE) XP_005251391.1:p.Gly5=
XM_005251334.4:c.15T>C (GNE) XP_005251391.1:p.Gly5=
XR_001746655.1:n.255-11277A>G
XR_001746656.1:n.463-11277A>G
XR_001746657.1:n.255-11277A>G
XR_001746658.1:n.254+11356A>G
XR_001746659.1:n.255-11277A>G
XR_001746660.1:n.255-11277A>G
XR_001746661.1:n.255-11277A>G
XR_929584.1:n.462-11277A>G
XR_929585.1:n.659-11277A>G