Canonical Allele Identifier: CA373426396

Gene: GNE CLTA

Linked Data

• MyVariant Identifiers: chr9:g.36222867C>G (hg19) ; chr9:g.36222870C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222870C>G , CM000671.2:g.36222870C>G	GRCh38
NC_000009.11:g.36222867C>G , CM000671.1:g.36222867C>G	GRCh37
NC_000009.10:g.36212867C>G	NCBI36
NG_008246.1:g.59175G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000396594.8:c.1633G>C (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Val545Leu
ENST00000543356.7:c.1363G>C (GNE)	ENSP00000437765.3:p.Val455Leu
ENST00000642385.2:c.1540G>C (GNE) MANE Select	ENSP00000494141.2:p.Val514Leu
ENST00000377902.5:c.1540G>C (GNE)	ENSP00000367134.4:p.Val514Leu
ENST00000396594.7:c.1633G>C (GNE)	ENSP00000379839.3:p.Val545Leu
ENST00000447283.6:c.1411+503G>C (GNE)	ENSP00000414760.2:n.1411+503G>C
ENST00000464497.5:c.485+18691C>G (CLTA)	ENSP00000419158.1:n.485+18691C>G
ENST00000539208.5:c.1210G>C (GNE)	ENSP00000445117.1:p.Val404Leu
ENST00000539815.5:c.1540G>C (GNE)	ENSP00000439155.1:p.Val514Leu
ENST00000543356.6:c.1525G>C (GNE)	ENSP00000437765.2:p.Val509Leu
NM_001128227.2:c.1633G>C (GNE)	NP_001121699.1:p.Val545Leu
NM_001190383.1:c.1411+503G>C (GNE)	NP_001177312.1:n.1411+503G>C
NM_001190384.1:c.1210G>C (GNE)	NP_001177313.1:p.Val404Leu
NM_001190388.1:c.1525G>C (GNE)	NP_001177317.1:p.Val509Leu
NM_005476.5:c.1540G>C (GNE)	NP_005467.1:p.Val514Leu
XM_005251334.3:c.1480G>C (GNE)	XP_005251391.1:p.Val494Leu
NM_001190383.2:c.1411+503G>C (GNE)	NP_001177312.1:n.1411+503G>C
NM_001190384.2:c.1210G>C (GNE)	NP_001177313.1:p.Val404Leu
NM_005476.6:c.1540G>C (GNE)	NP_005467.1:p.Val514Leu
XM_005251334.4:c.1480G>C (GNE)	XP_005251391.1:p.Val494Leu
XM_017014167.1:c.1540G>C (GNE)	XP_016869656.1:p.Val514Leu
XM_017014168.1:c.1387G>C (GNE)	XP_016869657.1:p.Val463Leu
NM_001128227.3:c.1633G>C (GNE) MANE Plus Clinical	NP_001121699.1:p.Val545Leu
NM_001190383.3:c.1411+503G>C (GNE)	NP_001177312.1:n.1411+503G>C
NM_001190384.3:c.1210G>C (GNE)	NP_001177313.1:p.Val404Leu
NM_001190388.2:c.1363G>C (GNE)	NP_001177317.2:p.Val455Leu
NM_001374797.1:c.1387G>C (GNE)	NP_001361726.1:p.Val463Leu
NM_001374798.1:c.1363G>C (GNE)	NP_001361727.1:p.Val455Leu
NM_005476.7:c.1540G>C (GNE) MANE Select	NP_005467.1:p.Val514Leu