Canonical Allele Identifier: CA1825159

Linked Data

ClinVar Variation Id: 532550
ClinVar RCV Id: RCV002234006
dbSNP Id: rs764223500

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108929367C>T , CM000664.2:g.108929367C>T GRCh38
NC_000002.11:g.109545823C>T , CM000664.1:g.109545823C>T GRCh37
NC_000002.10:g.108912255C>T NCBI36
NG_008257.1:g.65006G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.187G>A (EDAR) MANE Select ENSP00000258443.2:p.Gly63Ser
ENST00000258443.6:c.187G>A (EDAR) ENSP00000258443.2:p.Gly63Ser
ENST00000376651.1:c.187G>A (EDAR) ENSP00000365839.1:p.Gly63Ser
ENST00000409271.5:c.187G>A (EDAR) ENSP00000386371.1:p.Gly63Ser
NM_022336.3:c.187G>A (EDAR) NP_071731.1:p.Gly63Ser
XM_006712204.1:c.187G>A (EDAR) XP_006712267.1:p.Gly63Ser
XM_011510502.1:c.238G>A (EDAR) XP_011508804.1:p.Gly80Ser
XM_011510503.1:c.238G>A (EDAR) XP_011508805.1:p.Gly80Ser
XM_011510502.2:c.331G>A (EDAR) XP_011508804.2:p.Gly111Ser
XM_011510503.2:c.331G>A (EDAR) XP_011508805.2:p.Gly111Ser
XM_017004623.2:c.8370+156321C>T (RANBP2) XP_016860112.1:n.8370+156321C>T
NM_022336.4:c.187G>A (EDAR) MANE Select NP_071731.1:p.Gly63Ser