LDH info

Canonical Allele Identifier: CA16041309
Gene: GNE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371291
ClinVar RCV Id: RCV000411425
dbSNP Id: rs1057517157

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36219873del , CM000671.2:g.36219873del GRCh38
NC_000009.11:g.36219870del , CM000671.1:g.36219870del GRCh37
NC_000009.10:g.36209870del NCBI36
NG_008246.1:g.62172del

Transcript Alleles

HGVS Amino-acid change
NM_001128227.2:c.1874del VV NP_001121699.1:p.Met625ArgfsTer?
NM_001190383.1:c.1559del VV NP_001177312.1:p.Met520ArgfsTer?
NM_001190384.1:c.1451del VV NP_001177313.1:p.Met484ArgfsTer?
NM_001190388.1:c.1766del VV NP_001177317.1:p.Met589ArgfsTer?
NM_005476.5:c.1781del VV NP_005467.1:p.Met594ArgfsTer?
XM_005251334.3:c.1721del XP_005251391.1:p.Met574ArgfsTer?
NM_001190383.2:c.1559del VV NP_001177312.1:p.Met520ArgfsTer?
NM_001190384.2:c.1451del VV NP_001177313.1:p.Met484ArgfsTer?
NM_005476.6:c.1781del VV NP_005467.1:p.Met594ArgfsTer?
XM_005251334.4:c.1721del XP_005251391.1:p.Met574ArgfsTer?
XM_017014167.1:c.1781del XP_016869656.1:p.Met594ArgfsTer?
XM_017014168.1:c.1628del XP_016869657.1:p.Met543ArgfsTer?
NM_001128227.3:c.1874del VV NP_001121699.1:p.Met625ArgfsTer?
NM_001190383.3:c.1559del VV NP_001177312.1:p.Met520ArgfsTer?
NM_001190384.3:c.1451del VV NP_001177313.1:p.Met484ArgfsTer?
NM_001190388.2:c.1604del VV NP_001177317.2:p.Met535ArgfsTer?
NM_001374797.1:c.1628del VV NP_001361726.1:p.Met543ArgfsTer?
NM_001374798.1:c.1604del VV NP_001361727.1:p.Met535ArgfsTer?
NM_005476.7:c.1781del VV MANE Preferred NP_005467.1:p.Met594ArgfsTer?
ENST00000377902.5:c.1781del ENSP00000367134.4:p.Met594ArgfsTer?
ENST00000396594.7:c.1874del ENSP00000379839.3:p.Met625ArgfsTer?
ENST00000447283.6:c.1559del ENSP00000414760.2:p.Met520ArgfsTer?
ENST00000464497.5:c.485+15694del ENSP00000419158.1:p.=
ENST00000539208.5:c.1451del ENSP00000445117.1:p.Met484ArgfsTer?
ENST00000539815.5:c.1781del ENSP00000439155.1:p.Met594ArgfsTer?
ENST00000543356.6:n.1766del ENSP00000437765.2:p.Met589ArgfsTer?