Canonical Allele Identifier: CA348048032

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897066T>G , CM000664.2:g.108897066T>G GRCh38
NC_000002.11:g.109513522T>G , CM000664.1:g.109513522T>G GRCh37
NC_000002.10:g.108879954T>G NCBI36
NG_008257.1:g.97307A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1188A>C (EDAR) MANE Select ENSP00000258443.2:p.Gln396His
ENST00000258443.6:c.1188A>C (EDAR) ENSP00000258443.2:p.Gln396His
ENST00000376651.1:c.1284A>C (EDAR) ENSP00000365839.1:p.Gln428His
ENST00000409271.5:c.1284A>C (EDAR) ENSP00000386371.1:p.Gln428His
NM_022336.3:c.1188A>C (EDAR) NP_071731.1:p.Gln396His
XM_006712204.1:c.1284A>C (EDAR) XP_006712267.1:p.Gln428His
XM_011510502.1:c.1335A>C (EDAR) XP_011508804.1:p.Gln445His
XM_011510503.1:c.1239A>C (EDAR) XP_011508805.1:p.Gln413His
XM_011510504.1:c.615A>C (EDAR) XP_011508806.1:p.Gln205His
XM_011510502.2:c.1428A>C (EDAR) XP_011508804.2:p.Gln476His
XM_011510503.2:c.1332A>C (EDAR) XP_011508805.2:p.Gln444His
XM_017004623.2:c.8370+124020T>G (RANBP2) XP_016860112.1:n.8370+124020T>G
NM_022336.4:c.1188A>C (EDAR) MANE Select NP_071731.1:p.Gln396His