Canonical Allele Identifier: CA348050726

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907870T>G , CM000664.2:g.108907870T>G GRCh38
NC_000002.11:g.109524326T>G , CM000664.1:g.109524326T>G GRCh37
NC_000002.10:g.108890758T>G NCBI36
NG_008257.1:g.86503A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.953A>C (EDAR) MANE Select ENSP00000258443.2:p.Lys318Thr
ENST00000258443.6:c.953A>C (EDAR) ENSP00000258443.2:p.Lys318Thr
ENST00000376651.1:c.1049A>C (EDAR) ENSP00000365839.1:p.Lys350Thr
ENST00000409271.5:c.1049A>C (EDAR) ENSP00000386371.1:p.Lys350Thr
NM_022336.3:c.953A>C (EDAR) NP_071731.1:p.Lys318Thr
XM_006712204.1:c.1049A>C (EDAR) XP_006712267.1:p.Lys350Thr
XM_011510502.1:c.1100A>C (EDAR) XP_011508804.1:p.Lys367Thr
XM_011510503.1:c.1004A>C (EDAR) XP_011508805.1:p.Lys335Thr
XM_011510504.1:c.380A>C (EDAR) XP_011508806.1:p.Lys127Thr
XM_011510502.2:c.1193A>C (EDAR) XP_011508804.2:p.Lys398Thr
XM_011510503.2:c.1097A>C (EDAR) XP_011508805.2:p.Lys366Thr
XM_017004623.2:c.8370+134824T>G (RANBP2) XP_016860112.1:n.8370+134824T>G
NM_022336.4:c.953A>C (EDAR) MANE Select NP_071731.1:p.Lys318Thr