Canonical Allele Identifier: CA373429444
Community Standard Title: NC_000009.12:g.36276923G>A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36276923G>A , CM000671.2:g.36276923G>A GRCh38
NC_000009.11:g.36276920G>A , CM000671.1:g.36276920G>A GRCh37
NC_000009.10:g.36266920G>A NCBI36
NG_008246.1:g.5122C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001128227.3:c.22C>T (GNE) MANE Plus Clinical NP_001121699.1:p.Gln8Ter
ENST00000396594.8:c.22C>T (GNE) MANE Plus Clinical ENSP00000379839.3:p.Gln8Ter
NM_001128227.2:c.22C>T (GNE) NP_001121699.1:p.Gln8Ter
NM_001190388.1:c.120C>T (GNE) NP_001177317.1:p.Cys40=
NM_001190388.2:c.-43C>T (GNE) NP_001177317.2:n.-43C>T
ENST00000396594.7:c.22C>T (GNE) ENSP00000379839.3:p.Gln8Ter
ENST00000464497.5:c.*101+11349G>A (CLTA) ENSP00000419158.1:n.*101+11349G>A
ENST00000543356.6:c.120C>T (GNE) ENSP00000437765.2:p.Cys40=
ENST00000543356.7:c.-43C>T (GNE) ENSP00000437765.3:n.-43C>T
ENST00000644762.1:n.54C>T (GNE)
XM_005251334.3:c.22C>T (GNE) XP_005251391.1:p.Gln8Ter
XM_005251334.4:c.22C>T (GNE) XP_005251391.1:p.Gln8Ter
XR_001746655.1:n.255-11284G>A
XR_001746656.1:n.463-11284G>A
XR_001746657.1:n.255-11284G>A
XR_001746658.1:n.254+11349G>A
XR_001746659.1:n.255-11284G>A
XR_001746660.1:n.255-11284G>A
XR_001746661.1:n.255-11284G>A
XR_929584.1:n.462-11284G>A
XR_929585.1:n.659-11284G>A