Canonical Allele Identifier: CA348050751

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907877T>G , CM000664.2:g.108907877T>G GRCh38
NC_000002.11:g.109524333T>G , CM000664.1:g.109524333T>G GRCh37
NC_000002.10:g.108890765T>G NCBI36
NG_008257.1:g.86496A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.946A>C (EDAR) MANE Select ENSP00000258443.2:p.Ser316Arg
ENST00000258443.6:c.946A>C (EDAR) ENSP00000258443.2:p.Ser316Arg
ENST00000376651.1:c.1042A>C (EDAR) ENSP00000365839.1:p.Ser348Arg
ENST00000409271.5:c.1042A>C (EDAR) ENSP00000386371.1:p.Ser348Arg
NM_022336.3:c.946A>C (EDAR) NP_071731.1:p.Ser316Arg
XM_006712204.1:c.1042A>C (EDAR) XP_006712267.1:p.Ser348Arg
XM_011510502.1:c.1093A>C (EDAR) XP_011508804.1:p.Ser365Arg
XM_011510503.1:c.997A>C (EDAR) XP_011508805.1:p.Ser333Arg
XM_011510504.1:c.373A>C (EDAR) XP_011508806.1:p.Ser125Arg
XM_011510502.2:c.1186A>C (EDAR) XP_011508804.2:p.Ser396Arg
XM_011510503.2:c.1090A>C (EDAR) XP_011508805.2:p.Ser364Arg
XM_017004623.2:c.8370+134831T>G (RANBP2) XP_016860112.1:n.8370+134831T>G
NM_022336.4:c.946A>C (EDAR) MANE Select NP_071731.1:p.Ser316Arg