Canonical Allele Identifier: CA1824863
Community Standard Title: NM_022336.4(EDAR):c.973C>T (p.Arg325Trp)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108906359G>A , CM000664.2:g.108906359G>A GRCh38
NC_000002.11:g.109522815G>A , CM000664.1:g.109522815G>A GRCh37
NC_000002.10:g.108889247G>A NCBI36
NG_008257.1:g.88014C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022336.4:c.973C>T (EDAR) MANE Select NP_071731.1:p.Arg325Trp
ENST00000258443.7:c.973C>T (EDAR) MANE Select ENSP00000258443.2:p.Arg325Trp
NM_022336.3:c.973C>T (EDAR) NP_071731.1:p.Arg325Trp
ENST00000258443.6:c.973C>T (EDAR) ENSP00000258443.2:p.Arg325Trp
ENST00000376651.1:c.1069C>T (EDAR) ENSP00000365839.1:p.Arg357Trp
ENST00000409271.5:c.1069C>T (EDAR) ENSP00000386371.1:p.Arg357Trp
XM_006712204.1:c.1069C>T (EDAR) XP_006712267.1:p.Arg357Trp
XM_011510502.1:c.1120C>T (EDAR) XP_011508804.1:p.Arg374Trp
XM_011510502.2:c.1213C>T (EDAR) XP_011508804.2:p.Arg405Trp
XM_011510503.1:c.1024C>T (EDAR) XP_011508805.1:p.Arg342Trp
XM_011510503.2:c.1117C>T (EDAR) XP_011508805.2:p.Arg373Trp
XM_011510504.1:c.400C>T (EDAR) XP_011508806.1:p.Arg134Trp
XM_017004623.2:c.8370+133313G>A (RANBP2) XP_016860112.1:n.8370+133313G>A