Canonical Allele Identifier: CA348047993

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897049C>G , CM000664.2:g.108897049C>G GRCh38
NC_000002.11:g.109513505C>G , CM000664.1:g.109513505C>G GRCh37
NC_000002.10:g.108879937C>G NCBI36
NG_008257.1:g.97324G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1205G>C (EDAR) MANE Select ENSP00000258443.2:p.Ser402Thr
ENST00000258443.6:c.1205G>C (EDAR) ENSP00000258443.2:p.Ser402Thr
ENST00000376651.1:c.1301G>C (EDAR) ENSP00000365839.1:p.Ser434Thr
ENST00000409271.5:c.1301G>C (EDAR) ENSP00000386371.1:p.Ser434Thr
NM_022336.3:c.1205G>C (EDAR) NP_071731.1:p.Ser402Thr
XM_006712204.1:c.1301G>C (EDAR) XP_006712267.1:p.Ser434Thr
XM_011510502.1:c.1352G>C (EDAR) XP_011508804.1:p.Ser451Thr
XM_011510503.1:c.1256G>C (EDAR) XP_011508805.1:p.Ser419Thr
XM_011510504.1:c.632G>C (EDAR) XP_011508806.1:p.Ser211Thr
XM_011510502.2:c.1445G>C (EDAR) XP_011508804.2:p.Ser482Thr
XM_011510503.2:c.1349G>C (EDAR) XP_011508805.2:p.Ser450Thr
XM_017004623.2:c.8370+124003C>G (RANBP2) XP_016860112.1:n.8370+124003C>G
NM_022336.4:c.1205G>C (EDAR) MANE Select NP_071731.1:p.Ser402Thr