Canonical Allele Identifier: CA1846355596

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36234046G= , CM000671.2:g.36234046G=	GRCh38
NC_000009.11:g.36234043G= , CM000671.1:g.36234043G=	GRCh37
NC_000009.10:g.36224043G=	NCBI36
NG_008246.1:g.47999C=

Transcript Alleles

HGVS	Amino-acid Change
NM_005476.7:c.856C= (GNE) MANE Select	NP_005467.1:p.Gln286=
ENST00000642385.2:c.856C= (GNE) MANE Select	ENSP00000494141.2:p.Gln286=
NM_001128227.3:c.949C= (GNE) MANE Plus Clinical	NP_001121699.1:p.Gln317=
ENST00000396594.8:c.949C= (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Gln317=
NM_001128227.2:c.949C= (GNE)	NP_001121699.1:p.Gln317=
NM_001190383.1:c.856C= (GNE)	NP_001177312.1:p.Gln286=
NM_001190383.2:c.856C= (GNE)	NP_001177312.1:p.Gln286=
NM_001190383.3:c.856C= (GNE)	NP_001177312.1:p.Gln286=
NM_001190384.1:c.526C= (GNE)	NP_001177313.1:p.Gln176=
NM_001190384.2:c.526C= (GNE)	NP_001177313.1:p.Gln176=
NM_001190384.3:c.526C= (GNE)	NP_001177313.1:p.Gln176=
NM_001190388.1:c.841C= (GNE)	NP_001177317.1:p.Gln281=
NM_001190388.2:c.679C= (GNE)	NP_001177317.2:p.Gln227=
NM_001374797.1:c.703C= (GNE)	NP_001361726.1:p.Gln235=
NM_001374798.1:c.679C= (GNE)	NP_001361727.1:p.Gln227=
NM_005476.5:c.856C= (GNE)	NP_005467.1:p.Gln286=
NM_005476.6:c.856C= (GNE)	NP_005467.1:p.Gln286=
ENST00000377902.5:c.856C= (GNE)	ENSP00000367134.4:p.Gln286=
ENST00000396594.7:c.949C= (GNE)	ENSP00000379839.3:p.Gln317=
ENST00000447283.6:c.856C= (GNE)	ENSP00000414760.2:p.Gln286=
ENST00000464497.5:c.486-29152G= (CLTA)	ENSP00000419158.1:n.486-29152G=
ENST00000539208.5:c.526C= (GNE)	ENSP00000445117.1:p.Gln176=
ENST00000539815.5:c.856C= (GNE)	ENSP00000439155.1:p.Gln286=
ENST00000543356.6:c.841C= (GNE)	ENSP00000437765.2:p.Gln281=
ENST00000543356.7:c.679C= (GNE)	ENSP00000437765.3:p.Gln227=
XM_005251334.3:c.796C= (GNE)	XP_005251391.1:p.Gln266=
XM_005251334.4:c.796C= (GNE)	XP_005251391.1:p.Gln266=
XM_017014167.1:c.856C= (GNE)	XP_016869656.1:p.Gln286=
XM_017014168.1:c.703C= (GNE)	XP_016869657.1:p.Gln235=