LDH info

Canonical Allele Identifier: CA020154
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36899
dbSNP Id: rs193922608

User contributed link-outs

CIViC: CA020154

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142089C>T , CM000665.2:g.10142089C>T GRCh38
NC_000003.11:g.10183773C>T , CM000665.1:g.10183773C>T GRCh37
NC_000003.10:g.10158773C>T NCBI36
NG_008212.3:g.5455C>T , LRG_322:g.5455C>T

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.242C>T , LRG_322t1:c.242C>T NP_000542.1:p.Pro81Leu
NM_198156.2:c.242C>T VV NP_937799.1:p.Pro81Leu
XM_011534078.1:c.242C>T XP_011532380.1:p.Pro81Leu
NM_001354723.1:c.242C>T VV NP_001341652.1:p.Pro81Leu
NM_000551.4:c.242C>T VV MANE Preferred NP_000542.1:p.Pro81Leu
NM_001354723.2:c.242C>T VV NP_001341652.1:p.Pro81Leu
NM_198156.3:c.242C>T VV NP_937799.1:p.Pro81Leu
ENST00000256474.2:c.242C>T ENSP00000256474.2:p.Pro81Leu
ENST00000345392.2:c.242C>T ENSP00000344757.2:p.Pro81Leu