LDH info

Canonical Allele Identifier: CA341712
Gene: KCNJ11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21193
ClinVar RCV Id: RCV000020344
dbSNP Id: rs193929358

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387091C>T , CM000673.2:g.17387091C>T GRCh38
NC_000011.9:g.17408638C>T , CM000673.1:g.17408638C>T GRCh37
NC_000011.8:g.17365214C>T NCBI36
NG_012446.1:g.6569G>A

Transcript Alleles

HGVS Amino-acid change
NM_000525.3:c.1001G>A VV NP_000516.3:p.Gly334Asp
NM_001166290.1:c.740G>A VV NP_001159762.1:p.Gly247Asp
XM_006718226.2:c.740G>A XP_006718289.1:p.Gly247Asp
XR_930867.1:n.1159G>A
XM_006718226.3:c.740G>A XP_006718289.1:p.Gly247Asp
XM_017017680.1:c.740G>A XP_016873169.1:p.Gly247Asp
NM_001166290.2:c.740G>A VV NP_001159762.1:p.Gly247Asp
NM_001377296.1:c.740G>A VV NP_001364225.1:p.Gly247Asp
NM_001377297.1:c.740G>A VV NP_001364226.1:p.Gly247Asp
ENST00000339994.4:c.1001G>A ENSP00000345708.4:p.Gly334Asp
ENST00000528731.1:c.740G>A ENSP00000434755.1:p.Gly247Asp