Canonical Allele Identifier: CA117813

Linked Data

ClinVar Variation Id: 5858
dbSNP Id: rs3827760

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897145A>G , CM000664.2:g.108897145A>G GRCh38
NC_000002.11:g.109513601A>G , CM000664.1:g.109513601A>G GRCh37
NC_000002.10:g.108880033A>G NCBI36
NG_008257.1:g.97228T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1109T>C (EDAR) MANE Select ENSP00000258443.2:p.Val370Ala
ENST00000258443.6:c.1109T>C ENSP00000258443.2:p.Val370Ala
ENST00000376651.1:c.1205T>C ENSP00000365839.1:p.Val402Ala
ENST00000409271.5:c.1205T>C ENSP00000386371.1:p.Val402Ala
NM_022336.3:c.1109T>C (EDAR) NP_071731.1:p.Val370Ala
XM_006712204.1:c.1205T>C (EDAR) XP_006712267.1:p.Val402Ala
XM_011510502.1:c.1256T>C (EDAR) XP_011508804.1:p.Val419Ala
XM_011510503.1:c.1160T>C (EDAR) XP_011508805.1:p.Val387Ala
XM_011510504.1:c.536T>C (EDAR) XP_011508806.1:p.Val179Ala
XM_011510502.2:c.1349T>C (EDAR) XP_011508804.2:p.Val450Ala
XM_011510503.2:c.1253T>C (EDAR) XP_011508805.2:p.Val418Ala
XM_017004623.2:c.8370+124099A>G (RANBP2) XP_016860112.1:p.=
NM_022336.4:c.1109T>C (EDAR) MANE Select NP_071731.1:p.Val370Ala