LDH info

Canonical Allele Identifier: CA5613704

Identifiers and link-outs to other resources

ClinVar Variation Id: 301735
ClinVar RCV Id: RCV000292908
dbSNP Id: rs3203713

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94327971A>G , CM000672.2:g.94327971A>G GRCh38
NC_000010.10:g.96087728A>G , CM000672.1:g.96087728A>G GRCh37
NC_000010.9:g.96077718A>G NCBI36
NG_015799.1:g.338983A>G

Transcript Alleles

HGVS Amino-acid change
NM_001165979.2:c.*28A>G (PLCE1) VV NP_001159451.1:p.=
NM_001288989.1:c.*28A>G (PLCE1) VV NP_001275918.1:p.=
NM_016341.3:c.*28A>G (PLCE1) VV NP_057425.3:p.=
XM_006717885.2:c.*28A>G (PLCE1) XP_006717948.1:p.=
XM_006717888.2:c.*28A>G (PLCE1) XP_006717951.1:p.=
XM_006717889.2:c.*28A>G (PLCE1) XP_006717952.1:p.=
XM_006717890.1:c.*28A>G (PLCE1) XP_006717953.1:p.=
XM_011539849.1:c.*28A>G (PLCE1) XP_011538151.1:p.=
XM_011539850.1:c.*28A>G (PLCE1) XP_011538152.1:p.=
XR_945799.1:n.3310+5419T>C (NOC3L)
XM_006717885.4:c.*28A>G (PLCE1) XP_006717948.1:p.=
XM_006717888.4:c.*28A>G (PLCE1) XP_006717951.1:p.=
XM_006717889.4:c.*28A>G (PLCE1) XP_006717952.1:p.=
XM_006717890.3:c.*28A>G (PLCE1) XP_006717953.1:p.=
XM_011539849.3:c.*28A>G (PLCE1) XP_011538151.1:p.=
XM_011539850.3:c.*28A>G (PLCE1) XP_011538152.1:p.=
XM_017016310.2:c.*28A>G (PLCE1) XP_016871799.1:p.=
XM_017016312.2:c.*28A>G (PLCE1) XP_016871801.1:p.=
XR_002957007.1:n.3311+5419T>C (NOC3L)
NM_001288989.2:c.*28A>G (PLCE1) VV NP_001275918.1:p.=
NM_016341.4:c.*28A>G (PLCE1) VV NP_057425.3:p.=
ENST00000260766.7:c.*28A>G ENSP00000260766.3:p.=
ENST00000371380.7:c.*28A>G ENSP00000360431.2:p.=
ENST00000371385.7:c.*28A>G ENSP00000360438.3:p.=