Canonical Allele Identifier: CA1846333552

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36222890G= , CM000671.2:g.36222890G= GRCh38
NC_000009.11:g.36222887G= , CM000671.1:g.36222887G= GRCh37
NC_000009.10:g.36212887G= NCBI36
NG_008246.1:g.59155C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000396594.8:c.1613C= (GNE) MANE Plus Clinical ENSP00000379839.3:p.Thr538=
ENST00000543356.7:c.1343C= (GNE) ENSP00000437765.3:p.Thr448=
ENST00000642385.2:c.1520C= (GNE) MANE Select ENSP00000494141.2:p.Thr507=
ENST00000377902.5:c.1520C= (GNE) ENSP00000367134.4:p.Thr507=
ENST00000396594.7:c.1613C= (GNE) ENSP00000379839.3:p.Thr538=
ENST00000447283.6:c.1411+483C= (GNE) ENSP00000414760.2:n.1411+483C=
ENST00000464497.5:c.485+18711G= (CLTA) ENSP00000419158.1:n.485+18711G=
ENST00000539208.5:c.1190C= (GNE) ENSP00000445117.1:p.Thr397=
ENST00000539815.5:c.1520C= (GNE) ENSP00000439155.1:p.Thr507=
ENST00000543356.6:c.1505C= (GNE) ENSP00000437765.2:p.Thr502=
NM_001128227.2:c.1613C= (GNE) NP_001121699.1:p.Thr538=
NM_001190383.1:c.1411+483C= (GNE) NP_001177312.1:n.1411+483C=
NM_001190384.1:c.1190C= (GNE) NP_001177313.1:p.Thr397=
NM_001190388.1:c.1505C= (GNE) NP_001177317.1:p.Thr502=
NM_005476.5:c.1520C= (GNE) NP_005467.1:p.Thr507=
XM_005251334.3:c.1460C= (GNE) XP_005251391.1:p.Thr487=
NM_001190383.2:c.1411+483C= (GNE) NP_001177312.1:n.1411+483C=
NM_001190384.2:c.1190C= (GNE) NP_001177313.1:p.Thr397=
NM_005476.6:c.1520C= (GNE) NP_005467.1:p.Thr507=
XM_005251334.4:c.1460C= (GNE) XP_005251391.1:p.Thr487=
XM_017014167.1:c.1520C= (GNE) XP_016869656.1:p.Thr507=
XM_017014168.1:c.1367C= (GNE) XP_016869657.1:p.Thr456=
NM_001128227.3:c.1613C= (GNE) MANE Plus Clinical NP_001121699.1:p.Thr538=
NM_001190383.3:c.1411+483C= (GNE) NP_001177312.1:n.1411+483C=
NM_001190384.3:c.1190C= (GNE) NP_001177313.1:p.Thr397=
NM_001190388.2:c.1343C= (GNE) NP_001177317.2:p.Thr448=
NM_001374797.1:c.1367C= (GNE) NP_001361726.1:p.Thr456=
NM_001374798.1:c.1343C= (GNE) NP_001361727.1:p.Thr448=
NM_005476.7:c.1520C= (GNE) MANE Select NP_005467.1:p.Thr507=