Canonical Allele Identifier: CA373425741

Gene: GNE CLTA

Linked Data

• MyVariant Identifiers: chr9:g.36219963C>A (hg19) ; chr9:g.36219966C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36219966C>A , CM000671.2:g.36219966C>A	GRCh38
NC_000009.11:g.36219963C>A , CM000671.1:g.36219963C>A	GRCh37
NC_000009.10:g.36209963C>A	NCBI36
NG_008246.1:g.62079G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1781G>T (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Cys594Phe
ENST00000543356.7:c.1511G>T (GNE)	ENSP00000437765.3:p.Cys504Phe
ENST00000642385.2:c.1688G>T (GNE) MANE Select	ENSP00000494141.2:p.Cys563Phe
ENST00000377902.5:c.1688G>T (GNE)	ENSP00000367134.4:p.Cys563Phe
ENST00000396594.7:c.1781G>T (GNE)	ENSP00000379839.3:p.Cys594Phe
ENST00000447283.6:c.1466G>T (GNE)	ENSP00000414760.2:p.Cys489Phe
ENST00000464497.5:c.485+15787C>A (CLTA)	ENSP00000419158.1:n.485+15787C>A
ENST00000539208.5:c.1358G>T (GNE)	ENSP00000445117.1:p.Cys453Phe
ENST00000539815.5:c.1688G>T (GNE)	ENSP00000439155.1:p.Cys563Phe
ENST00000543356.6:c.1673G>T (GNE)	ENSP00000437765.2:p.Cys558Phe
NM_001128227.2:c.1781G>T (GNE)	NP_001121699.1:p.Cys594Phe
NM_001190383.1:c.1466G>T (GNE)	NP_001177312.1:p.Cys489Phe
NM_001190384.1:c.1358G>T (GNE)	NP_001177313.1:p.Cys453Phe
NM_001190388.1:c.1673G>T (GNE)	NP_001177317.1:p.Cys558Phe
NM_005476.5:c.1688G>T (GNE)	NP_005467.1:p.Cys563Phe
XM_005251334.3:c.1628G>T (GNE)	XP_005251391.1:p.Cys543Phe
NM_001190383.2:c.1466G>T (GNE)	NP_001177312.1:p.Cys489Phe
NM_001190384.2:c.1358G>T (GNE)	NP_001177313.1:p.Cys453Phe
NM_005476.6:c.1688G>T (GNE)	NP_005467.1:p.Cys563Phe
XM_005251334.4:c.1628G>T (GNE)	XP_005251391.1:p.Cys543Phe
XM_017014167.1:c.1688G>T (GNE)	XP_016869656.1:p.Cys563Phe
XM_017014168.1:c.1535G>T (GNE)	XP_016869657.1:p.Cys512Phe
NM_001128227.3:c.1781G>T (GNE) MANE Plus Clinical	NP_001121699.1:p.Cys594Phe
NM_001190383.3:c.1466G>T (GNE)	NP_001177312.1:p.Cys489Phe
NM_001190384.3:c.1358G>T (GNE)	NP_001177313.1:p.Cys453Phe
NM_001190388.2:c.1511G>T (GNE)	NP_001177317.2:p.Cys504Phe
NM_001374797.1:c.1535G>T (GNE)	NP_001361726.1:p.Cys512Phe
NM_001374798.1:c.1511G>T (GNE)	NP_001361727.1:p.Cys504Phe
NM_005476.7:c.1688G>T (GNE) MANE Select	NP_005467.1:p.Cys563Phe