Canonical Allele Identifier: CA1846333348

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222827A= , CM000671.2:g.36222827A=	GRCh38
NC_000009.11:g.36222824A= , CM000671.1:g.36222824A=	GRCh37
NC_000009.10:g.36212824A=	NCBI36
NG_008246.1:g.59218T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1676T= (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Phe559=
ENST00000543356.7:c.1406T= (GNE)	ENSP00000437765.3:p.Phe469=
ENST00000642385.2:c.1583T= (GNE) MANE Select	ENSP00000494141.2:p.Phe528=
ENST00000377902.5:c.1583T= (GNE)	ENSP00000367134.4:p.Phe528=
ENST00000396594.7:c.1676T= (GNE)	ENSP00000379839.3:p.Phe559=
ENST00000447283.6:c.1411+546T= (GNE)	ENSP00000414760.2:n.1411+546T=
ENST00000464497.5:c.485+18648A= (CLTA)	ENSP00000419158.1:n.485+18648A=
ENST00000539208.5:c.1253T= (GNE)	ENSP00000445117.1:p.Phe418=
ENST00000539815.5:c.1583T= (GNE)	ENSP00000439155.1:p.Phe528=
ENST00000543356.6:c.1568T= (GNE)	ENSP00000437765.2:p.Phe523=
NM_001128227.2:c.1676T= (GNE)	NP_001121699.1:p.Phe559=
NM_001190383.1:c.1411+546T= (GNE)	NP_001177312.1:n.1411+546T=
NM_001190384.1:c.1253T= (GNE)	NP_001177313.1:p.Phe418=
NM_001190388.1:c.1568T= (GNE)	NP_001177317.1:p.Phe523=
NM_005476.5:c.1583T= (GNE)	NP_005467.1:p.Phe528=
XM_005251334.3:c.1523T= (GNE)	XP_005251391.1:p.Phe508=
NM_001190383.2:c.1411+546T= (GNE)	NP_001177312.1:n.1411+546T=
NM_001190384.2:c.1253T= (GNE)	NP_001177313.1:p.Phe418=
NM_005476.6:c.1583T= (GNE)	NP_005467.1:p.Phe528=
XM_005251334.4:c.1523T= (GNE)	XP_005251391.1:p.Phe508=
XM_017014167.1:c.1583T= (GNE)	XP_016869656.1:p.Phe528=
XM_017014168.1:c.1430T= (GNE)	XP_016869657.1:p.Phe477=
NM_001128227.3:c.1676T= (GNE) MANE Plus Clinical	NP_001121699.1:p.Phe559=
NM_001190383.3:c.1411+546T= (GNE)	NP_001177312.1:n.1411+546T=
NM_001190384.3:c.1253T= (GNE)	NP_001177313.1:p.Phe418=
NM_001190388.2:c.1406T= (GNE)	NP_001177317.2:p.Phe469=
NM_001374797.1:c.1430T= (GNE)	NP_001361726.1:p.Phe477=
NM_001374798.1:c.1406T= (GNE)	NP_001361727.1:p.Phe469=
NM_005476.7:c.1583T= (GNE) MANE Select	NP_005467.1:p.Phe528=