Canonical Allele Identifier: CA53464866

Linked Data

dbSNP Id: rs886039348

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897133C>A , CM000664.2:g.108897133C>A GRCh38
NC_000002.11:g.109513589C>A , CM000664.1:g.109513589C>A GRCh37
NC_000002.10:g.108880021C>A NCBI36
NG_008257.1:g.97240G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1121G>T (EDAR) MANE Select ENSP00000258443.2:p.Trp374Leu
ENST00000258443.6:c.1121G>T (EDAR) ENSP00000258443.2:p.Trp374Leu
ENST00000376651.1:c.1217G>T (EDAR) ENSP00000365839.1:p.Trp406Leu
ENST00000409271.5:c.1217G>T (EDAR) ENSP00000386371.1:p.Trp406Leu
NM_022336.3:c.1121G>T (EDAR) NP_071731.1:p.Trp374Leu
XM_006712204.1:c.1217G>T (EDAR) XP_006712267.1:p.Trp406Leu
XM_011510502.1:c.1268G>T (EDAR) XP_011508804.1:p.Trp423Leu
XM_011510503.1:c.1172G>T (EDAR) XP_011508805.1:p.Trp391Leu
XM_011510504.1:c.548G>T (EDAR) XP_011508806.1:p.Trp183Leu
XM_011510502.2:c.1361G>T (EDAR) XP_011508804.2:p.Trp454Leu
XM_011510503.2:c.1265G>T (EDAR) XP_011508805.2:p.Trp422Leu
XM_017004623.2:c.8370+124087C>A (RANBP2) XP_016860112.1:n.8370+124087C>A
NM_022336.4:c.1121G>T (EDAR) MANE Select NP_071731.1:p.Trp374Leu