Canonical Allele Identifier: CA373429356
Community Standard Title: NC_000009.12:g.36276892A>T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36276892A>T , CM000671.2:g.36276892A>T GRCh38
NC_000009.11:g.36276889A>T , CM000671.1:g.36276889A>T GRCh37
NC_000009.10:g.36266889A>T NCBI36
NG_008246.1:g.5153T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001128227.3:c.51+2T>A (GNE) MANE Plus Clinical NP_001121699.1:n.51+2T>A
ENST00000396594.8:c.51+2T>A (GNE) MANE Plus Clinical ENSP00000379839.3:n.51+2T>A
NM_001128227.2:c.51+2T>A (GNE) NP_001121699.1:n.51+2T>A
NM_001190388.1:c.149+2T>A (GNE) NP_001177317.1:n.149+2T>A
NM_001190388.2:c.-14+2T>A (GNE) NP_001177317.2:n.-14+2T>A
ENST00000396594.7:c.51+2T>A (GNE) ENSP00000379839.3:n.51+2T>A
ENST00000464497.5:c.*101+11318A>T (CLTA) ENSP00000419158.1:n.*101+11318A>T
ENST00000543356.6:c.149+2T>A (GNE) ENSP00000437765.2:n.149+2T>A
ENST00000543356.7:c.-14+2T>A (GNE) ENSP00000437765.3:n.-14+2T>A
ENST00000644762.1:n.83+2T>A (GNE)
XM_005251334.3:c.51+2T>A (GNE) XP_005251391.1:n.51+2T>A
XM_005251334.4:c.51+2T>A (GNE) XP_005251391.1:n.51+2T>A
XR_001746655.1:n.255-11315A>T
XR_001746656.1:n.463-11315A>T
XR_001746657.1:n.255-11315A>T
XR_001746658.1:n.254+11318A>T
XR_001746659.1:n.255-11315A>T
XR_001746660.1:n.255-11315A>T
XR_001746661.1:n.255-11315A>T
XR_929584.1:n.462-11315A>T
XR_929585.1:n.659-11315A>T