Canonical Allele Identifier: CA117808

Linked Data

ClinVar Variation Id: 5852
dbSNP Id: rs121908452

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897182G>A , CM000664.2:g.108897182G>A GRCh38
NC_000002.11:g.109513638G>A , CM000664.1:g.109513638G>A GRCh37
NC_000002.10:g.108880070G>A NCBI36
NG_008257.1:g.97191C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1072C>T (EDAR) MANE Select ENSP00000258443.2:p.Arg358Ter
ENST00000258443.6:c.1072C>T (EDAR) ENSP00000258443.2:p.Arg358Ter
ENST00000376651.1:c.1168C>T (EDAR) ENSP00000365839.1:p.Arg390Ter
ENST00000409271.5:c.1168C>T (EDAR) ENSP00000386371.1:p.Arg390Ter
NM_022336.3:c.1072C>T (EDAR) NP_071731.1:p.Arg358Ter
XM_006712204.1:c.1168C>T (EDAR) XP_006712267.1:p.Arg390Ter
XM_011510502.1:c.1219C>T (EDAR) XP_011508804.1:p.Arg407Ter
XM_011510503.1:c.1123C>T (EDAR) XP_011508805.1:p.Arg375Ter
XM_011510504.1:c.499C>T (EDAR) XP_011508806.1:p.Arg167Ter
XM_011510502.2:c.1312C>T (EDAR) XP_011508804.2:p.Arg438Ter
XM_011510503.2:c.1216C>T (EDAR) XP_011508805.2:p.Arg406Ter
XM_017004623.2:c.8370+124136G>A (RANBP2) XP_016860112.1:n.8370+124136G>A
NM_022336.4:c.1072C>T (EDAR) MANE Select NP_071731.1:p.Arg358Ter