LDH info

Canonical Allele Identifier: CA1824885

Identifiers and link-outs to other resources

ClinVar Variation Id: 283784
dbSNP Id: rs10432616

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907863G>A , CM000664.2:g.108907863G>A GRCh38
NC_000002.11:g.109524319G>A , CM000664.1:g.109524319G>A GRCh37
NC_000002.10:g.108890751G>A NCBI36
NG_008257.1:g.86510C>T

Transcript Alleles

HGVS Amino-acid change
NM_022336.3:c.960C>T (EDAR) VV NP_071731.1:p.Ala320=
XM_006712204.1:c.1056C>T (EDAR) XP_006712267.1:p.Ala352=
XM_011510502.1:c.1107C>T (EDAR) XP_011508804.1:p.Ala369=
XM_011510503.1:c.1011C>T (EDAR) XP_011508805.1:p.Ala337=
XM_011510504.1:c.387C>T (EDAR) XP_011508806.1:p.Ala129=
XM_011510502.2:c.1200C>T (EDAR) XP_011508804.2:p.Ala400=
XM_011510503.2:c.1104C>T (EDAR) XP_011508805.2:p.Ala368=
XM_017004623.2:c.8370+134817G>A (RANBP2) XP_016860112.1:p.=
NM_022336.4:c.960C>T (EDAR) VV NP_071731.1:p.Ala320=
ENST00000258443.6:c.960C>T ENSP00000258443.2:p.Ala320=
ENST00000376651.1:c.1056C>T ENSP00000365839.1:p.Ala352=
ENST00000409271.5:c.1056C>T ENSP00000386371.1:p.Ala352=