Canonical Allele Identifier: CA348050701

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907864G>A , CM000664.2:g.108907864G>A GRCh38
NC_000002.11:g.109524320G>A , CM000664.1:g.109524320G>A GRCh37
NC_000002.10:g.108890752G>A NCBI36
NG_008257.1:g.86509C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.959C>T (EDAR) MANE Select ENSP00000258443.2:p.Ala320Val
ENST00000258443.6:c.959C>T (EDAR) ENSP00000258443.2:p.Ala320Val
ENST00000376651.1:c.1055C>T (EDAR) ENSP00000365839.1:p.Ala352Val
ENST00000409271.5:c.1055C>T (EDAR) ENSP00000386371.1:p.Ala352Val
NM_022336.3:c.959C>T (EDAR) NP_071731.1:p.Ala320Val
XM_006712204.1:c.1055C>T (EDAR) XP_006712267.1:p.Ala352Val
XM_011510502.1:c.1106C>T (EDAR) XP_011508804.1:p.Ala369Val
XM_011510503.1:c.1010C>T (EDAR) XP_011508805.1:p.Ala337Val
XM_011510504.1:c.386C>T (EDAR) XP_011508806.1:p.Ala129Val
XM_011510502.2:c.1199C>T (EDAR) XP_011508804.2:p.Ala400Val
XM_011510503.2:c.1103C>T (EDAR) XP_011508805.2:p.Ala368Val
XM_017004623.2:c.8370+134818G>A (RANBP2) XP_016860112.1:n.8370+134818G>A
NM_022336.4:c.959C>T (EDAR) MANE Select NP_071731.1:p.Ala320Val