Canonical Allele Identifier: CA348047994

Linked Data

ClinVar Variation Id: 2922761
ClinVar RCV Id: RCV003787927
dbSNP Id: rs1431108613

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897049C>T , CM000664.2:g.108897049C>T GRCh38
NC_000002.11:g.109513505C>T , CM000664.1:g.109513505C>T GRCh37
NC_000002.10:g.108879937C>T NCBI36
NG_008257.1:g.97324G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1205G>A (EDAR) MANE Select ENSP00000258443.2:p.Ser402Asn
ENST00000258443.6:c.1205G>A (EDAR) ENSP00000258443.2:p.Ser402Asn
ENST00000376651.1:c.1301G>A (EDAR) ENSP00000365839.1:p.Ser434Asn
ENST00000409271.5:c.1301G>A (EDAR) ENSP00000386371.1:p.Ser434Asn
NM_022336.3:c.1205G>A (EDAR) NP_071731.1:p.Ser402Asn
XM_006712204.1:c.1301G>A (EDAR) XP_006712267.1:p.Ser434Asn
XM_011510502.1:c.1352G>A (EDAR) XP_011508804.1:p.Ser451Asn
XM_011510503.1:c.1256G>A (EDAR) XP_011508805.1:p.Ser419Asn
XM_011510504.1:c.632G>A (EDAR) XP_011508806.1:p.Ser211Asn
XM_011510502.2:c.1445G>A (EDAR) XP_011508804.2:p.Ser482Asn
XM_011510503.2:c.1349G>A (EDAR) XP_011508805.2:p.Ser450Asn
XM_017004623.2:c.8370+124003C>T (RANBP2) XP_016860112.1:n.8370+124003C>T
NM_022336.4:c.1205G>A (EDAR) MANE Select NP_071731.1:p.Ser402Asn