Canonical Allele Identifier: CA1846334410

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36223416A= , CM000671.2:g.36223416A= GRCh38
NC_000009.11:g.36223413A= , CM000671.1:g.36223413A= GRCh37
NC_000009.10:g.36213413A= NCBI36
NG_008246.1:g.58629T=

Transcript Alleles

HGVS Amino-acid change
ENST00000396594.8:c.1461T= (GNE) MANE Plus Clinical ENSP00000379839.3:p.Ala487=
ENST00000543356.7:c.1191T= (GNE) ENSP00000437765.3:p.Ala397=
ENST00000642385.2:c.1368T= (GNE) MANE Select ENSP00000494141.2:p.Ala456=
ENST00000377902.5:c.1368T= (GNE) ENSP00000367134.4:p.Ala456=
ENST00000396594.7:c.1461T= (GNE) ENSP00000379839.3:p.Ala487=
ENST00000447283.6:c.1368T= (GNE) ENSP00000414760.2:p.Ala456=
ENST00000464497.5:c.485+19237A= (CLTA) ENSP00000419158.1:n.485+19237A=
ENST00000539208.5:c.1038T= (GNE) ENSP00000445117.1:p.Ala346=
ENST00000539815.5:c.1368T= (GNE) ENSP00000439155.1:p.Ala456=
ENST00000543356.6:c.1353T= (GNE) ENSP00000437765.2:p.Ala451=
NM_001128227.2:c.1461T= (GNE) NP_001121699.1:p.Ala487=
NM_001190383.1:c.1368T= (GNE) NP_001177312.1:p.Ala456=
NM_001190384.1:c.1038T= (GNE) NP_001177313.1:p.Ala346=
NM_001190388.1:c.1353T= (GNE) NP_001177317.1:p.Ala451=
NM_005476.5:c.1368T= (GNE) NP_005467.1:p.Ala456=
XM_005251334.3:c.1308T= (GNE) XP_005251391.1:p.Ala436=
NM_001190383.2:c.1368T= (GNE) NP_001177312.1:p.Ala456=
NM_001190384.2:c.1038T= (GNE) NP_001177313.1:p.Ala346=
NM_005476.6:c.1368T= (GNE) NP_005467.1:p.Ala456=
XM_005251334.4:c.1308T= (GNE) XP_005251391.1:p.Ala436=
XM_017014167.1:c.1368T= (GNE) XP_016869656.1:p.Ala456=
XM_017014168.1:c.1215T= (GNE) XP_016869657.1:p.Ala405=
NM_001128227.3:c.1461T= (GNE) MANE Plus Clinical NP_001121699.1:p.Ala487=
NM_001190383.3:c.1368T= (GNE) NP_001177312.1:p.Ala456=
NM_001190384.3:c.1038T= (GNE) NP_001177313.1:p.Ala346=
NM_001190388.2:c.1191T= (GNE) NP_001177317.2:p.Ala397=
NM_001374797.1:c.1215T= (GNE) NP_001361726.1:p.Ala405=
NM_001374798.1:c.1191T= (GNE) NP_001361727.1:p.Ala397=
NM_005476.7:c.1368T= (GNE) MANE Select NP_005467.1:p.Ala456=