Canonical Allele Identifier: CA10610993
Community Standard Title: NC_000002.12:g.108989311G>A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108989311G>A , CM000664.2:g.108989311G>A GRCh38
NC_000002.11:g.109605767G>A , CM000664.1:g.109605767G>A GRCh37
NC_000002.10:g.108972199G>A NCBI36
NG_008257.1:g.5062C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022336.3:c.-370C>T (EDAR) NP_071731.1:n.-370C>T
ENST00000258443.6:c.-370C>T (EDAR) ENSP00000258443.2:n.-370C>T
ENST00000376651.1:c.-370C>T (EDAR) ENSP00000365839.1:n.-370C>T
XM_017004623.2:c.8370+216265G>A (RANBP2) XP_016860112.1:n.8370+216265G>A