Canonical Allele Identifier: CA1824899

Linked Data

ClinVar Variation Id: 929861
ClinVar RCV Id: RCV001261886
dbSNP Id: rs200267845

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907952C>T , CM000664.2:g.108907952C>T GRCh38
NC_000002.11:g.109524408C>T , CM000664.1:g.109524408C>T GRCh37
NC_000002.10:g.108890840C>T NCBI36
NG_008257.1:g.86421G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.871G>A (EDAR) MANE Select ENSP00000258443.2:p.Ala291Thr
ENST00000258443.6:c.871G>A (EDAR) ENSP00000258443.2:p.Ala291Thr
ENST00000376651.1:c.967G>A (EDAR) ENSP00000365839.1:p.Ala323Thr
ENST00000409271.5:c.967G>A (EDAR) ENSP00000386371.1:p.Ala323Thr
NM_022336.3:c.871G>A (EDAR) NP_071731.1:p.Ala291Thr
XM_006712204.1:c.967G>A (EDAR) XP_006712267.1:p.Ala323Thr
XM_011510502.1:c.1018G>A (EDAR) XP_011508804.1:p.Ala340Thr
XM_011510503.1:c.922G>A (EDAR) XP_011508805.1:p.Ala308Thr
XM_011510504.1:c.298G>A (EDAR) XP_011508806.1:p.Ala100Thr
XM_011510502.2:c.1111G>A (EDAR) XP_011508804.2:p.Ala371Thr
XM_011510503.2:c.1015G>A (EDAR) XP_011508805.2:p.Ala339Thr
XM_017004623.2:c.8370+134906C>T (RANBP2) XP_016860112.1:n.8370+134906C>T
NM_022336.4:c.871G>A (EDAR) MANE Select NP_071731.1:p.Ala291Thr