Canonical Allele Identifier: CA754961004

Linked Data

dbSNP Id: rs1319692929

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907792A>G , CM000664.2:g.108907792A>G GRCh38
NC_000002.11:g.109524248A>G , CM000664.1:g.109524248A>G GRCh37
NC_000002.10:g.108890680A>G NCBI36
NG_008257.1:g.86581T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.963+68T>C (EDAR) MANE Select ENSP00000258443.2:n.963+68T>C
ENST00000258443.6:c.963+68T>C (EDAR) ENSP00000258443.2:n.963+68T>C
ENST00000376651.1:c.1059+68T>C (EDAR) ENSP00000365839.1:n.1059+68T>C
ENST00000409271.5:c.1059+68T>C (EDAR) ENSP00000386371.1:n.1059+68T>C
NM_022336.3:c.963+68T>C (EDAR) NP_071731.1:n.963+68T>C
XM_006712204.1:c.1059+68T>C (EDAR) XP_006712267.1:n.1059+68T>C
XM_011510502.1:c.1110+68T>C (EDAR) XP_011508804.1:n.1110+68T>C
XM_011510503.1:c.1014+68T>C (EDAR) XP_011508805.1:n.1014+68T>C
XM_011510504.1:c.390+68T>C (EDAR) XP_011508806.1:n.390+68T>C
XM_011510502.2:c.1203+68T>C (EDAR) XP_011508804.2:n.1203+68T>C
XM_011510503.2:c.1107+68T>C (EDAR) XP_011508805.2:n.1107+68T>C
XM_017004623.2:c.8370+134746A>G (RANBP2) XP_016860112.1:n.8370+134746A>G
NM_022336.4:c.963+68T>C (EDAR) MANE Select NP_071731.1:n.963+68T>C