LDH info

Canonical Allele Identifier: CA172332
Gene: KCNJ11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 158678
ClinVar RCV Id: RCV000146109
dbSNP Id: rs587783671

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387556T>G , CM000673.2:g.17387556T>G GRCh38
NC_000011.9:g.17409103T>G , CM000673.1:g.17409103T>G GRCh37
NC_000011.8:g.17365679T>G NCBI36
NG_012446.1:g.6104A>C

Transcript Alleles

HGVS Amino-acid change
NM_000525.3:c.536A>C VV NP_000516.3:p.Glu179Ala
NM_001166290.1:c.275A>C VV NP_001159762.1:p.Glu92Ala
XM_006718226.2:c.275A>C XP_006718289.1:p.Glu92Ala
XR_930867.1:n.694A>C
XM_006718226.3:c.275A>C XP_006718289.1:p.Glu92Ala
XM_017017680.1:c.275A>C XP_016873169.1:p.Glu92Ala
ENST00000339994.4:c.536A>C ENSP00000345708.4:p.Glu179Ala
ENST00000526912.1:c.275A>C ENSP00000432729.1:p.Glu92Ala
ENST00000528731.1:c.275A>C ENSP00000434755.1:p.Glu92Ala