Canonical Allele Identifier: CA373426827

Gene: GNE CLTA

Linked Data

• MyVariant Identifiers: chr9:g.36222957T>A (hg19) ; chr9:g.36222960T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222960T>A , CM000671.2:g.36222960T>A	GRCh38
NC_000009.11:g.36222957T>A , CM000671.1:g.36222957T>A	GRCh37
NC_000009.10:g.36212957T>A	NCBI36
NG_008246.1:g.59085A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1543A>T (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Ile515Phe
ENST00000543356.7:c.1273A>T (GNE)	ENSP00000437765.3:p.Ile425Phe
ENST00000642385.2:c.1450A>T (GNE) MANE Select	ENSP00000494141.2:p.Ile484Phe
ENST00000377902.5:c.1450A>T (GNE)	ENSP00000367134.4:p.Ile484Phe
ENST00000396594.7:c.1543A>T (GNE)	ENSP00000379839.3:p.Ile515Phe
ENST00000447283.6:c.1411+413A>T (GNE)	ENSP00000414760.2:n.1411+413A>T
ENST00000464497.5:c.485+18781T>A (CLTA)	ENSP00000419158.1:n.485+18781T>A
ENST00000539208.5:c.1120A>T (GNE)	ENSP00000445117.1:p.Ile374Phe
ENST00000539815.5:c.1450A>T (GNE)	ENSP00000439155.1:p.Ile484Phe
ENST00000543356.6:c.1435A>T (GNE)	ENSP00000437765.2:p.Ile479Phe
NM_001128227.2:c.1543A>T (GNE)	NP_001121699.1:p.Ile515Phe
NM_001190383.1:c.1411+413A>T (GNE)	NP_001177312.1:n.1411+413A>T
NM_001190384.1:c.1120A>T (GNE)	NP_001177313.1:p.Ile374Phe
NM_001190388.1:c.1435A>T (GNE)	NP_001177317.1:p.Ile479Phe
NM_005476.5:c.1450A>T (GNE)	NP_005467.1:p.Ile484Phe
XM_005251334.3:c.1390A>T (GNE)	XP_005251391.1:p.Ile464Phe
NM_001190383.2:c.1411+413A>T (GNE)	NP_001177312.1:n.1411+413A>T
NM_001190384.2:c.1120A>T (GNE)	NP_001177313.1:p.Ile374Phe
NM_005476.6:c.1450A>T (GNE)	NP_005467.1:p.Ile484Phe
XM_005251334.4:c.1390A>T (GNE)	XP_005251391.1:p.Ile464Phe
XM_017014167.1:c.1450A>T (GNE)	XP_016869656.1:p.Ile484Phe
XM_017014168.1:c.1297A>T (GNE)	XP_016869657.1:p.Ile433Phe
NM_001128227.3:c.1543A>T (GNE) MANE Plus Clinical	NP_001121699.1:p.Ile515Phe
NM_001190383.3:c.1411+413A>T (GNE)	NP_001177312.1:n.1411+413A>T
NM_001190384.3:c.1120A>T (GNE)	NP_001177313.1:p.Ile374Phe
NM_001190388.2:c.1273A>T (GNE)	NP_001177317.2:p.Ile425Phe
NM_001374797.1:c.1297A>T (GNE)	NP_001361726.1:p.Ile433Phe
NM_001374798.1:c.1273A>T (GNE)	NP_001361727.1:p.Ile425Phe
NM_005476.7:c.1450A>T (GNE) MANE Select	NP_005467.1:p.Ile484Phe