LDH info

Canonical Allele Identifier: CA020089
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2226
dbSNP Id: rs104893826

User contributed link-outs

CIViC: CA020089

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142038G>C , CM000665.2:g.10142038G>C GRCh38
NC_000003.11:g.10183722G>C , CM000665.1:g.10183722G>C GRCh37
NC_000003.10:g.10158722G>C NCBI36
NG_008212.3:g.5404G>C , LRG_322:g.5404G>C

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.191G>C , LRG_322t1:c.191G>C NP_000542.1:p.Arg64Pro
NM_198156.2:c.191G>C VV NP_937799.1:p.Arg64Pro
XM_011534078.1:c.191G>C XP_011532380.1:p.Arg64Pro
NM_001354723.1:c.191G>C VV NP_001341652.1:p.Arg64Pro
NM_000551.4:c.191G>C VV MANE Preferred NP_000542.1:p.Arg64Pro
NM_001354723.2:c.191G>C VV NP_001341652.1:p.Arg64Pro
NM_198156.3:c.191G>C VV NP_937799.1:p.Arg64Pro
ENST00000256474.2:c.191G>C ENSP00000256474.2:p.Arg64Pro
ENST00000345392.2:c.191G>C ENSP00000344757.2:p.Arg64Pro