Canonical Allele Identifier: CA348047999

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897052A>G , CM000664.2:g.108897052A>G GRCh38
NC_000002.11:g.109513508A>G , CM000664.1:g.109513508A>G GRCh37
NC_000002.10:g.108879940A>G NCBI36
NG_008257.1:g.97321T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1202T>C (EDAR) MANE Select ENSP00000258443.2:p.Ile401Thr
ENST00000258443.6:c.1202T>C (EDAR) ENSP00000258443.2:p.Ile401Thr
ENST00000376651.1:c.1298T>C (EDAR) ENSP00000365839.1:p.Ile433Thr
ENST00000409271.5:c.1298T>C (EDAR) ENSP00000386371.1:p.Ile433Thr
NM_022336.3:c.1202T>C (EDAR) NP_071731.1:p.Ile401Thr
XM_006712204.1:c.1298T>C (EDAR) XP_006712267.1:p.Ile433Thr
XM_011510502.1:c.1349T>C (EDAR) XP_011508804.1:p.Ile450Thr
XM_011510503.1:c.1253T>C (EDAR) XP_011508805.1:p.Ile418Thr
XM_011510504.1:c.629T>C (EDAR) XP_011508806.1:p.Ile210Thr
XM_011510502.2:c.1442T>C (EDAR) XP_011508804.2:p.Ile481Thr
XM_011510503.2:c.1346T>C (EDAR) XP_011508805.2:p.Ile449Thr
XM_017004623.2:c.8370+124006A>G (RANBP2) XP_016860112.1:n.8370+124006A>G
NM_022336.4:c.1202T>C (EDAR) MANE Select NP_071731.1:p.Ile401Thr