LDH info

Canonical Allele Identifier: CA254515
Gene: KCNJ11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8665
ClinVar RCV Id: RCV000009197
dbSNP Id: rs28936678

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387652A>G , CM000673.2:g.17387652A>G GRCh38
NC_000011.9:g.17409199A>G , CM000673.1:g.17409199A>G GRCh37
NC_000011.8:g.17365775A>G NCBI36
NG_012446.1:g.6008T>C

Transcript Alleles

HGVS Amino-acid change
NM_000525.3:c.440T>C VV NP_000516.3:p.Leu147Pro
NM_001166290.1:c.179T>C VV NP_001159762.1:p.Leu60Pro
XM_006718226.2:c.179T>C XP_006718289.1:p.Leu60Pro
XR_930867.1:n.598T>C
XM_006718226.3:c.179T>C XP_006718289.1:p.Leu60Pro
XM_017017680.1:c.179T>C XP_016873169.1:p.Leu60Pro
ENST00000339994.4:c.440T>C ENSP00000345708.4:p.Leu147Pro
ENST00000526912.1:c.179T>C ENSP00000432729.1:p.Leu60Pro
ENST00000528731.1:c.179T>C ENSP00000434755.1:p.Leu60Pro
ENST00000528992.1:n.457T>C