Canonical Allele Identifier: CA253679
Gene: GNE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6025
dbSNP Id: rs28937594

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36217399A>G , CM000671.2:g.36217399A>G GRCh38
NC_000009.11:g.36217396A>G , CM000671.1:g.36217396A>G GRCh37
NC_000009.10:g.36207396A>G NCBI36
NG_008246.1:g.64646T>C

Transcript Alleles

HGVS Amino-acid change
NM_001128227.2:c.2228T>C VV NP_001121699.1:p.Met743Thr
NM_001190383.1:c.1913T>C VV NP_001177312.1:p.Met638Thr
NM_001190384.1:c.1805T>C VV NP_001177313.1:p.Met602Thr
NM_001190388.1:c.2120T>C VV NP_001177317.1:p.Met707Thr
NM_005476.5:c.2135T>C VV NP_005467.1:p.Met712Thr
XM_005251334.3:c.2075T>C XP_005251391.1:p.Met692Thr
NM_001190383.2:c.1913T>C VV NP_001177312.1:p.Met638Thr
NM_001190384.2:c.1805T>C VV NP_001177313.1:p.Met602Thr
NM_005476.6:c.2135T>C VV NP_005467.1:p.Met712Thr
XM_005251334.4:c.2075T>C XP_005251391.1:p.Met692Thr
XM_017014167.1:c.2135T>C XP_016869656.1:p.Met712Thr
XM_017014168.1:c.1982T>C XP_016869657.1:p.Met661Thr
ENST00000377902.5:c.2135T>C ENSP00000367134.4:p.Met712Thr
ENST00000396594.7:c.2228T>C ENSP00000379839.3:p.Met743Thr
ENST00000447283.6:c.1913T>C ENSP00000414760.2:p.Met638Thr
ENST00000464497.5:c.485+13220A>G ENSP00000419158.1:p.=
ENST00000539208.5:c.1805T>C ENSP00000445117.1:p.Met602Thr
ENST00000539815.5:c.2135T>C ENSP00000439155.1:p.Met712Thr
ENST00000543356.6:n.2120T>C ENSP00000437765.2:p.Met707Thr