Canonical Allele Identifier: CA373430884

Gene: GNE CLTA

Linked Data

• MyVariant Identifiers: chr9:g.36234116C>G (hg19) ; chr9:g.36234119C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36234119C>G , CM000671.2:g.36234119C>G	GRCh38
NC_000009.11:g.36234116C>G , CM000671.1:g.36234116C>G	GRCh37
NC_000009.10:g.36224116C>G	NCBI36
NG_008246.1:g.47926G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000396594.8:c.876G>C (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Met292Ile
ENST00000543356.7:c.606G>C (GNE)	ENSP00000437765.3:p.Met202Ile
ENST00000642385.2:c.783G>C (GNE) MANE Select	ENSP00000494141.2:p.Met261Ile
ENST00000377902.5:c.783G>C (GNE)	ENSP00000367134.4:p.Met261Ile
ENST00000396594.7:c.876G>C (GNE)	ENSP00000379839.3:p.Met292Ile
ENST00000447283.6:c.783G>C (GNE)	ENSP00000414760.2:p.Met261Ile
ENST00000464497.5:c.486-29079C>G (CLTA)	ENSP00000419158.1:n.486-29079C>G
ENST00000539208.5:c.453G>C (GNE)	ENSP00000445117.1:p.Met151Ile
ENST00000539815.5:c.783G>C (GNE)	ENSP00000439155.1:p.Met261Ile
ENST00000543356.6:c.768G>C (GNE)	ENSP00000437765.2:p.Met256Ile
NM_001128227.2:c.876G>C (GNE)	NP_001121699.1:p.Met292Ile
NM_001190383.1:c.783G>C (GNE)	NP_001177312.1:p.Met261Ile
NM_001190384.1:c.453G>C (GNE)	NP_001177313.1:p.Met151Ile
NM_001190388.1:c.768G>C (GNE)	NP_001177317.1:p.Met256Ile
NM_005476.5:c.783G>C (GNE)	NP_005467.1:p.Met261Ile
XM_005251334.3:c.723G>C (GNE)	XP_005251391.1:p.Met241Ile
NM_001190383.2:c.783G>C (GNE)	NP_001177312.1:p.Met261Ile
NM_001190384.2:c.453G>C (GNE)	NP_001177313.1:p.Met151Ile
NM_005476.6:c.783G>C (GNE)	NP_005467.1:p.Met261Ile
XM_005251334.4:c.723G>C (GNE)	XP_005251391.1:p.Met241Ile
XM_017014167.1:c.783G>C (GNE)	XP_016869656.1:p.Met261Ile
XM_017014168.1:c.630G>C (GNE)	XP_016869657.1:p.Met210Ile
NM_001128227.3:c.876G>C (GNE) MANE Plus Clinical	NP_001121699.1:p.Met292Ile
NM_001190383.3:c.783G>C (GNE)	NP_001177312.1:p.Met261Ile
NM_001190384.3:c.453G>C (GNE)	NP_001177313.1:p.Met151Ile
NM_001190388.2:c.606G>C (GNE)	NP_001177317.2:p.Met202Ile
NM_001374797.1:c.630G>C (GNE)	NP_001361726.1:p.Met210Ile
NM_001374798.1:c.606G>C (GNE)	NP_001361727.1:p.Met202Ile
NM_005476.7:c.783G>C (GNE) MANE Select	NP_005467.1:p.Met261Ile