Canonical Allele Identifier: CA348048005

Linked Data

dbSNP Id: rs751763234

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897055C>A , CM000664.2:g.108897055C>A GRCh38
NC_000002.11:g.109513511C>A , CM000664.1:g.109513511C>A GRCh37
NC_000002.10:g.108879943C>A NCBI36
NG_008257.1:g.97318G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1199G>T (EDAR) MANE Select ENSP00000258443.2:p.Arg400Leu
ENST00000258443.6:c.1199G>T (EDAR) ENSP00000258443.2:p.Arg400Leu
ENST00000376651.1:c.1295G>T (EDAR) ENSP00000365839.1:p.Arg432Leu
ENST00000409271.5:c.1295G>T (EDAR) ENSP00000386371.1:p.Arg432Leu
NM_022336.3:c.1199G>T (EDAR) NP_071731.1:p.Arg400Leu
XM_006712204.1:c.1295G>T (EDAR) XP_006712267.1:p.Arg432Leu
XM_011510502.1:c.1346G>T (EDAR) XP_011508804.1:p.Arg449Leu
XM_011510503.1:c.1250G>T (EDAR) XP_011508805.1:p.Arg417Leu
XM_011510504.1:c.626G>T (EDAR) XP_011508806.1:p.Arg209Leu
XM_011510502.2:c.1439G>T (EDAR) XP_011508804.2:p.Arg480Leu
XM_011510503.2:c.1343G>T (EDAR) XP_011508805.2:p.Arg448Leu
XM_017004623.2:c.8370+124009C>A (RANBP2) XP_016860112.1:n.8370+124009C>A
NM_022336.4:c.1199G>T (EDAR) MANE Select NP_071731.1:p.Arg400Leu