LDH info

Canonical Allele Identifier: CA2359185
Gene: PTH1R HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 281247
dbSNP Id: rs121434601

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46898097C>T , CM000665.2:g.46898097C>T GRCh38
NC_000003.11:g.46939587C>T , CM000665.1:g.46939587C>T GRCh37
NC_000003.10:g.46914591C>T NCBI36
NG_008864.1:g.25352C>T

Transcript Alleles

HGVS Amino-acid change
NM_000316.2:c.448C>T VV NP_000307.1:p.Arg150Cys
NM_001184744.1:c.448C>T VV NP_001171673.1:p.Arg150Cys
XM_005265344.2:c.355C>T XP_005265401.1:p.Arg119Cys
XM_011533967.1:c.487C>T XP_011532269.1:p.Arg163Cys
XM_011533968.1:c.469C>T XP_011532270.1:p.Arg157Cys
XM_005265344.3:c.355C>T XP_005265401.1:p.Arg119Cys
XM_011533967.3:c.487C>T XP_011532269.1:p.Arg163Cys
XM_011533968.2:c.469C>T XP_011532270.1:p.Arg157Cys
XM_017006932.2:c.487C>T XP_016862421.1:p.Arg163Cys
XM_017006933.1:c.448C>T XP_016862422.1:p.Arg150Cys
XM_017006934.1:c.487C>T XP_016862423.1:p.Arg163Cys
NM_000316.3:c.448C>T VV MANE Preferred NP_000307.1:p.Arg150Cys
ENST00000313049.9:c.448C>T ENSP00000321999.4:p.Arg150Cys
ENST00000418619.5:c.448C>T ENSP00000411424.1:p.Arg150Cys
ENST00000427125.6:c.448C>T ENSP00000400977.2:p.Arg150Cys
ENST00000428220.1:c.448C>T ENSP00000389811.1:p.Arg150Cys
ENST00000430002.6:c.448C>T ENSP00000413774.2:p.Arg150Cys
ENST00000449590.5:c.448C>T ENSP00000402723.1:p.Arg150Cys
ENST00000490109.1:n.468C>T