Canonical Allele Identifier: CA5056831
Community Standard Title: NC_000009.12:g.36276927A>T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36276927A>T , CM000671.2:g.36276927A>T GRCh38
NC_000009.11:g.36276924A>T , CM000671.1:g.36276924A>T GRCh37
NC_000009.10:g.36266924A>T NCBI36
NG_008246.1:g.5118T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001128227.3:c.18T>A (GNE) MANE Plus Clinical NP_001121699.1:p.Tyr6Ter
ENST00000396594.8:c.18T>A (GNE) MANE Plus Clinical ENSP00000379839.3:p.Tyr6Ter
NM_001128227.2:c.18T>A (GNE) NP_001121699.1:p.Tyr6Ter
NM_001190388.1:c.116T>A (GNE) NP_001177317.1:p.Ile39Asn
NM_001190388.2:c.-47T>A (GNE) NP_001177317.2:n.-47T>A
ENST00000396594.7:c.18T>A (GNE) ENSP00000379839.3:p.Tyr6Ter
ENST00000464497.5:c.*101+11353A>T (CLTA) ENSP00000419158.1:n.*101+11353A>T
ENST00000543356.6:c.116T>A (GNE) ENSP00000437765.2:p.Ile39Asn
ENST00000543356.7:c.-47T>A (GNE) ENSP00000437765.3:n.-47T>A
ENST00000644762.1:n.50T>A (GNE)
XM_005251334.3:c.18T>A (GNE) XP_005251391.1:p.Tyr6Ter
XM_005251334.4:c.18T>A (GNE) XP_005251391.1:p.Tyr6Ter
XR_001746655.1:n.255-11280A>T
XR_001746656.1:n.463-11280A>T
XR_001746657.1:n.255-11280A>T
XR_001746658.1:n.254+11353A>T
XR_001746659.1:n.255-11280A>T
XR_001746660.1:n.255-11280A>T
XR_001746661.1:n.255-11280A>T
XR_929584.1:n.462-11280A>T
XR_929585.1:n.659-11280A>T