Canonical Allele Identifier: CA253629

Linked Data

ClinVar Variation Id: 5851
dbSNP Id: rs121908451

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108929295A>G , CM000664.2:g.108929295A>G GRCh38
NC_000002.11:g.109545751A>G , CM000664.1:g.109545751A>G GRCh37
NC_000002.10:g.108912183A>G NCBI36
NG_008257.1:g.65078T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.259T>C (EDAR) MANE Select ENSP00000258443.2:p.Cys87Arg
ENST00000258443.6:c.259T>C (EDAR) ENSP00000258443.2:p.Cys87Arg
ENST00000376651.1:c.259T>C (EDAR) ENSP00000365839.1:p.Cys87Arg
ENST00000409271.5:c.259T>C (EDAR) ENSP00000386371.1:p.Cys87Arg
NM_022336.3:c.259T>C (EDAR) NP_071731.1:p.Cys87Arg
XM_006712204.1:c.259T>C (EDAR) XP_006712267.1:p.Cys87Arg
XM_011510502.1:c.310T>C (EDAR) XP_011508804.1:p.Cys104Arg
XM_011510503.1:c.310T>C (EDAR) XP_011508805.1:p.Cys104Arg
XM_011510502.2:c.403T>C (EDAR) XP_011508804.2:p.Cys135Arg
XM_011510503.2:c.403T>C (EDAR) XP_011508805.2:p.Cys135Arg
XM_017004623.2:c.8370+156249A>G (RANBP2) XP_016860112.1:n.8370+156249A>G
NM_022336.4:c.259T>C (EDAR) MANE Select NP_071731.1:p.Cys87Arg