Canonical Allele Identifier: CA2689948015

Gene: GNE CLTA

Linked Data

• gnomAD v4: 9-36249434-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36249434A>G , CM000671.2:g.36249434A>G	GRCh38
NC_000009.11:g.36249431A>G , CM000671.1:g.36249431A>G	GRCh37
NC_000009.10:g.36239431A>G	NCBI36
NG_008246.1:g.32611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.52-37T>C (GNE) MANE Plus Clinical	ENSP00000379839.3:n.52-37T>C
ENST00000543356.7:c.-13-2952T>C (GNE)	ENSP00000437765.3:n.-13-2952T>C
ENST00000642385.2:c.-42-37T>C (GNE) MANE Select	ENSP00000494141.2:n.-42-37T>C
ENST00000377902.5:c.-42-37T>C (GNE)	ENSP00000367134.4:n.-42-37T>C
ENST00000396594.7:c.52-37T>C (GNE)	ENSP00000379839.3:n.52-37T>C
ENST00000447283.6:c.-42-37T>C (GNE)	ENSP00000414760.2:n.-42-37T>C
ENST00000464497.5:c.486-13764A>G (CLTA)	ENSP00000419158.1:n.486-13764A>G
ENST00000539208.5:c.-13-2952T>C (GNE)	ENSP00000445117.1:n.-13-2952T>C
ENST00000543356.6:c.150-2952T>C (GNE)	ENSP00000437765.2:n.150-2952T>C
NM_001128227.2:c.52-37T>C (GNE)	NP_001121699.1:n.52-37T>C
NM_001190383.1:c.-42-37T>C (GNE)	NP_001177312.1:n.-42-37T>C
NM_001190384.1:c.-13-2952T>C (GNE)	NP_001177313.1:n.-13-2952T>C
NM_001190388.1:c.150-2952T>C (GNE)	NP_001177317.1:n.150-2952T>C
NM_005476.5:c.-42-37T>C (GNE)	NP_005467.1:n.-42-37T>C
XM_005251334.3:c.52-37T>C (GNE)	XP_005251391.1:n.52-37T>C
NM_001190383.2:c.-42-37T>C (GNE)	NP_001177312.1:n.-42-37T>C
NM_001190384.2:c.-13-2952T>C (GNE)	NP_001177313.1:n.-13-2952T>C
NM_005476.6:c.-42-37T>C (GNE)	NP_005467.1:n.-42-37T>C
XM_005251334.4:c.52-37T>C (GNE)	XP_005251391.1:n.52-37T>C
XM_017014167.1:c.-42-37T>C (GNE)	XP_016869656.1:n.-42-37T>C
XM_017014168.1:c.-42-37T>C (GNE)	XP_016869657.1:n.-42-37T>C
NM_001128227.3:c.52-37T>C (GNE) MANE Plus Clinical	NP_001121699.1:n.52-37T>C
NM_001190383.3:c.-42-37T>C (GNE)	NP_001177312.1:n.-42-37T>C
NM_001190384.3:c.-13-2952T>C (GNE)	NP_001177313.1:n.-13-2952T>C
NM_001190388.2:c.-13-2952T>C (GNE)	NP_001177317.2:n.-13-2952T>C
NM_001374797.1:c.-42-37T>C (GNE)	NP_001361726.1:n.-42-37T>C
NM_001374798.1:c.-13-2952T>C (GNE)	NP_001361727.1:n.-13-2952T>C
NM_005476.7:c.-42-37T>C (GNE) MANE Select	NP_005467.1:n.-42-37T>C