LDH info

Canonical Allele Identifier: CA1825152

Identifiers and link-outs to other resources

ClinVar Variation Id: 265113
ClinVar RCV Id: RCV000256013
dbSNP Id: rs777022647

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108929342C>T , CM000664.2:g.108929342C>T GRCh38
NC_000002.11:g.109545798C>T , CM000664.1:g.109545798C>T GRCh37
NC_000002.10:g.108912230C>T NCBI36
NG_008257.1:g.65031G>A

Transcript Alleles

HGVS Amino-acid change
NM_022336.3:c.212G>A (EDAR) VV NP_071731.1:p.Cys71Tyr
XM_006712204.1:c.212G>A (EDAR) XP_006712267.1:p.Cys71Tyr
XM_011510502.1:c.263G>A (EDAR) XP_011508804.1:p.Cys88Tyr
XM_011510503.1:c.263G>A (EDAR) XP_011508805.1:p.Cys88Tyr
XM_011510502.2:c.356G>A (EDAR) XP_011508804.2:p.Cys119Tyr
XM_011510503.2:c.356G>A (EDAR) XP_011508805.2:p.Cys119Tyr
XM_017004623.2:c.8370+156296C>T (RANBP2) XP_016860112.1:p.=
NM_022336.4:c.212G>A (EDAR) VV NP_071731.1:p.Cys71Tyr
ENST00000258443.6:c.212G>A ENSP00000258443.2:p.Cys71Tyr
ENST00000376651.1:c.212G>A ENSP00000365839.1:p.Cys71Tyr
ENST00000409271.5:c.212G>A ENSP00000386371.1:p.Cys71Tyr