LDH info

Canonical Allele Identifier: CA172330
Gene: KCNJ11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 158677
ClinVar RCV Id: RCV000146108
dbSNP Id: rs587783670

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387571G>C , CM000673.2:g.17387571G>C GRCh38
NC_000011.9:g.17409118G>C , CM000673.1:g.17409118G>C GRCh37
NC_000011.8:g.17365694G>C NCBI36
NG_012446.1:g.6089C>G

Transcript Alleles

HGVS Amino-acid change
NM_000525.3:c.521C>G VV NP_000516.3:p.Ala174Gly
NM_001166290.1:c.260C>G VV NP_001159762.1:p.Ala87Gly
XM_006718226.2:c.260C>G XP_006718289.1:p.Ala87Gly
XR_930867.1:n.679C>G
XM_006718226.3:c.260C>G XP_006718289.1:p.Ala87Gly
XM_017017680.1:c.260C>G XP_016873169.1:p.Ala87Gly
ENST00000339994.4:c.521C>G ENSP00000345708.4:p.Ala174Gly
ENST00000526912.1:c.260C>G ENSP00000432729.1:p.Ala87Gly
ENST00000528731.1:c.260C>G ENSP00000434755.1:p.Ala87Gly