Canonical Allele Identifier: CA348050687

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907859C>A , CM000664.2:g.108907859C>A GRCh38
NC_000002.11:g.109524315C>A , CM000664.1:g.109524315C>A GRCh37
NC_000002.10:g.108890747C>A NCBI36
NG_008257.1:g.86514G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.963+1G>T (EDAR) MANE Select ENSP00000258443.2:n.963+1G>T
ENST00000258443.6:c.963+1G>T (EDAR) ENSP00000258443.2:n.963+1G>T
ENST00000376651.1:c.1059+1G>T (EDAR) ENSP00000365839.1:n.1059+1G>T
ENST00000409271.5:c.1059+1G>T (EDAR) ENSP00000386371.1:n.1059+1G>T
NM_022336.3:c.963+1G>T (EDAR) NP_071731.1:n.963+1G>T
XM_006712204.1:c.1059+1G>T (EDAR) XP_006712267.1:n.1059+1G>T
XM_011510502.1:c.1110+1G>T (EDAR) XP_011508804.1:n.1110+1G>T
XM_011510503.1:c.1014+1G>T (EDAR) XP_011508805.1:n.1014+1G>T
XM_011510504.1:c.390+1G>T (EDAR) XP_011508806.1:n.390+1G>T
XM_011510502.2:c.1203+1G>T (EDAR) XP_011508804.2:n.1203+1G>T
XM_011510503.2:c.1107+1G>T (EDAR) XP_011508805.2:n.1107+1G>T
XM_017004623.2:c.8370+134813C>A (RANBP2) XP_016860112.1:n.8370+134813C>A
NM_022336.4:c.963+1G>T (EDAR) MANE Select NP_071731.1:n.963+1G>T