LDH info

Canonical Allele Identifier: CA020083
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 135952
ClinVar RCV Id: RCV000123103
dbSNP Id: rs104893826

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.191G>A , LRG_322t1:c.191G>A NP_000542.1:p.Arg64His
NM_198156.2:c.191G>A VV NP_937799.1:p.Arg64His
XM_011534078.1:c.191G>A XP_011532380.1:p.Arg64His
NM_001354723.1:c.191G>A VV NP_001341652.1:p.Arg64His
NM_000551.4:c.191G>A VV MANE Preferred NP_000542.1:p.Arg64His
NM_001354723.2:c.191G>A VV NP_001341652.1:p.Arg64His
NM_198156.3:c.191G>A VV NP_937799.1:p.Arg64His
ENST00000256474.2:c.191G>A ENSP00000256474.2:p.Arg64His
ENST00000345392.2:c.191G>A ENSP00000344757.2:p.Arg64His