Canonical Allele Identifier: CA348048041

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897069C>T , CM000664.2:g.108897069C>T GRCh38
NC_000002.11:g.109513525C>T , CM000664.1:g.109513525C>T GRCh37
NC_000002.10:g.108879957C>T NCBI36
NG_008257.1:g.97304G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1185G>A (EDAR) MANE Select ENSP00000258443.2:p.Met395Ile
ENST00000258443.6:c.1185G>A (EDAR) ENSP00000258443.2:p.Met395Ile
ENST00000376651.1:c.1281G>A (EDAR) ENSP00000365839.1:p.Met427Ile
ENST00000409271.5:c.1281G>A (EDAR) ENSP00000386371.1:p.Met427Ile
NM_022336.3:c.1185G>A (EDAR) NP_071731.1:p.Met395Ile
XM_006712204.1:c.1281G>A (EDAR) XP_006712267.1:p.Met427Ile
XM_011510502.1:c.1332G>A (EDAR) XP_011508804.1:p.Met444Ile
XM_011510503.1:c.1236G>A (EDAR) XP_011508805.1:p.Met412Ile
XM_011510504.1:c.612G>A (EDAR) XP_011508806.1:p.Met204Ile
XM_011510502.2:c.1425G>A (EDAR) XP_011508804.2:p.Met475Ile
XM_011510503.2:c.1329G>A (EDAR) XP_011508805.2:p.Met443Ile
XM_017004623.2:c.8370+124023C>T (RANBP2) XP_016860112.1:n.8370+124023C>T
NM_022336.4:c.1185G>A (EDAR) MANE Select NP_071731.1:p.Met395Ile