LDH info

Canonical Allele Identifier: CA253631

Identifiers and link-outs to other resources

ClinVar Variation Id: 5855
ClinVar RCV Id: RCV000006213
dbSNP Id: rs121908454

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897130C>T , CM000664.2:g.108897130C>T GRCh38
NC_000002.11:g.109513586C>T , CM000664.1:g.109513586C>T GRCh37
NC_000002.10:g.108880018C>T NCBI36
NG_008257.1:g.97243G>A

Transcript Alleles

HGVS Amino-acid change
NM_022336.3:c.1124G>A (EDAR) VV NP_071731.1:p.Arg375His
XM_006712204.1:c.1220G>A (EDAR) XP_006712267.1:p.Arg407His
XM_011510502.1:c.1271G>A (EDAR) XP_011508804.1:p.Arg424His
XM_011510503.1:c.1175G>A (EDAR) XP_011508805.1:p.Arg392His
XM_011510504.1:c.551G>A (EDAR) XP_011508806.1:p.Arg184His
XM_011510502.2:c.1364G>A (EDAR) XP_011508804.2:p.Arg455His
XM_011510503.2:c.1268G>A (EDAR) XP_011508805.2:p.Arg423His
XM_017004623.2:c.8370+124084C>T (RANBP2) XP_016860112.1:p.=
NM_022336.4:c.1124G>A (EDAR) VV NP_071731.1:p.Arg375His
ENST00000258443.6:c.1124G>A ENSP00000258443.2:p.Arg375His
ENST00000376651.1:c.1220G>A ENSP00000365839.1:p.Arg407His
ENST00000409271.5:c.1220G>A ENSP00000386371.1:p.Arg407His