LDH info

Canonical Allele Identifier: CA117810

Identifiers and link-outs to other resources

ClinVar Variation Id: 5853
dbSNP Id: rs121908453

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108896995C>T , CM000664.2:g.108896995C>T GRCh38
NC_000002.11:g.109513451C>T , CM000664.1:g.109513451C>T GRCh37
NC_000002.10:g.108879883C>T NCBI36
NG_008257.1:g.97378G>A

Transcript Alleles

HGVS Amino-acid change
NM_022336.3:c.1259G>A (EDAR) VV NP_071731.1:p.Arg420Gln
XM_006712204.1:c.1355G>A (EDAR) XP_006712267.1:p.Arg452Gln
XM_011510502.1:c.1406G>A (EDAR) XP_011508804.1:p.Arg469Gln
XM_011510503.1:c.1310G>A (EDAR) XP_011508805.1:p.Arg437Gln
XM_011510504.1:c.686G>A (EDAR) XP_011508806.1:p.Arg229Gln
XM_011510502.2:c.1499G>A (EDAR) XP_011508804.2:p.Arg500Gln
XM_011510503.2:c.1403G>A (EDAR) XP_011508805.2:p.Arg468Gln
XM_017004623.2:c.8370+123949C>T (RANBP2) XP_016860112.1:p.=
NM_022336.4:c.1259G>A (EDAR) VV NP_071731.1:p.Arg420Gln
ENST00000258443.6:c.1259G>A ENSP00000258443.2:p.Arg420Gln
ENST00000376651.1:c.1355G>A ENSP00000365839.1:p.Arg452Gln
ENST00000409271.5:c.1355G>A ENSP00000386371.1:p.Arg452Gln