Canonical Allele Identifier: CA2573144639

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 1629450
• ClinVar RCV Id: RCV002118315
• dbSNP Id: rs139442869
• gnomAD v4: 9-36220027-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36220027C>G , CM000671.2:g.36220027C>G	GRCh38
NC_000009.11:g.36220024C>G , CM000671.1:g.36220024C>G	GRCh37
NC_000009.10:g.36210024C>G	NCBI36
NG_008246.1:g.62018G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1727-7G>C (GNE) MANE Plus Clinical	ENSP00000379839.3:n.1727-7G>C
ENST00000543356.7:c.1457-7G>C (GNE)	ENSP00000437765.3:n.1457-7G>C
ENST00000642385.2:c.1634-7G>C (GNE) MANE Select	ENSP00000494141.2:n.1634-7G>C
ENST00000377902.5:c.1634-7G>C (GNE)	ENSP00000367134.4:n.1634-7G>C
ENST00000396594.7:c.1727-7G>C (GNE)	ENSP00000379839.3:n.1727-7G>C
ENST00000447283.6:c.1412-7G>C (GNE)	ENSP00000414760.2:n.1412-7G>C
ENST00000464497.5:c.485+15848C>G (CLTA)	ENSP00000419158.1:n.485+15848C>G
ENST00000539208.5:c.1304-7G>C (GNE)	ENSP00000445117.1:n.1304-7G>C
ENST00000539815.5:c.1634-7G>C (GNE)	ENSP00000439155.1:n.1634-7G>C
ENST00000543356.6:c.1619-7G>C (GNE)	ENSP00000437765.2:n.1619-7G>C
NM_001128227.2:c.1727-7G>C (GNE)	NP_001121699.1:n.1727-7G>C
NM_001190383.1:c.1412-7G>C (GNE)	NP_001177312.1:n.1412-7G>C
NM_001190384.1:c.1304-7G>C (GNE)	NP_001177313.1:n.1304-7G>C
NM_001190388.1:c.1619-7G>C (GNE)	NP_001177317.1:n.1619-7G>C
NM_005476.5:c.1634-7G>C (GNE)	NP_005467.1:n.1634-7G>C
XM_005251334.3:c.1574-7G>C (GNE)	XP_005251391.1:n.1574-7G>C
NM_001190383.2:c.1412-7G>C (GNE)	NP_001177312.1:n.1412-7G>C
NM_001190384.2:c.1304-7G>C (GNE)	NP_001177313.1:n.1304-7G>C
NM_005476.6:c.1634-7G>C (GNE)	NP_005467.1:n.1634-7G>C
XM_005251334.4:c.1574-7G>C (GNE)	XP_005251391.1:n.1574-7G>C
XM_017014167.1:c.1634-7G>C (GNE)	XP_016869656.1:n.1634-7G>C
XM_017014168.1:c.1481-7G>C (GNE)	XP_016869657.1:n.1481-7G>C
NM_001128227.3:c.1727-7G>C (GNE) MANE Plus Clinical	NP_001121699.1:n.1727-7G>C
NM_001190383.3:c.1412-7G>C (GNE)	NP_001177312.1:n.1412-7G>C
NM_001190384.3:c.1304-7G>C (GNE)	NP_001177313.1:n.1304-7G>C
NM_001190388.2:c.1457-7G>C (GNE)	NP_001177317.2:n.1457-7G>C
NM_001374797.1:c.1481-7G>C (GNE)	NP_001361726.1:n.1481-7G>C
NM_001374798.1:c.1457-7G>C (GNE)	NP_001361727.1:n.1457-7G>C
NM_005476.7:c.1634-7G>C (GNE) MANE Select	NP_005467.1:n.1634-7G>C