LDH info

Canonical Allele Identifier: CA274979

Identifiers and link-outs to other resources

ClinVar Variation Id: 194115
ClinVar RCV Id: RCV000255133
dbSNP Id: rs747806672

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897110C>T , CM000664.2:g.108897110C>T GRCh38
NC_000002.11:g.109513566C>T , CM000664.1:g.109513566C>T GRCh37
NC_000002.10:g.108879998C>T NCBI36
NG_008257.1:g.97263G>A

Transcript Alleles

HGVS Amino-acid change
NM_022336.3:c.1144G>A (EDAR) VV NP_071731.1:p.Gly382Ser
XM_006712204.1:c.1240G>A (EDAR) XP_006712267.1:p.Gly414Ser
XM_011510502.1:c.1291G>A (EDAR) XP_011508804.1:p.Gly431Ser
XM_011510503.1:c.1195G>A (EDAR) XP_011508805.1:p.Gly399Ser
XM_011510504.1:c.571G>A (EDAR) XP_011508806.1:p.Gly191Ser
XM_011510502.2:c.1384G>A (EDAR) XP_011508804.2:p.Gly462Ser
XM_011510503.2:c.1288G>A (EDAR) XP_011508805.2:p.Gly430Ser
XM_017004623.2:c.8370+124064C>T (RANBP2) XP_016860112.1:p.=
NM_022336.4:c.1144G>A (EDAR) VV NP_071731.1:p.Gly382Ser
ENST00000258443.6:c.1144G>A ENSP00000258443.2:p.Gly382Ser
ENST00000376651.1:c.1240G>A ENSP00000365839.1:p.Gly414Ser
ENST00000409271.5:c.1240G>A ENSP00000386371.1:p.Gly414Ser