Canonical Allele Identifier: CA347501386
Community Standard Title: NM_032827.7(ATOH8):c.265G>C (p.Gly89Arg)
Gene: ATOH8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85754454G>C , CM000664.2:g.85754454G>C GRCh38
NC_000002.11:g.85981577G>C , CM000664.1:g.85981577G>C GRCh37
NC_000002.10:g.85835088G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_032827.7:c.265G>C MANE Select NP_116216.2:p.Gly89Arg
ENST00000306279.4:c.265G>C MANE Select ENSP00000304676.3:p.Gly89Arg
NM_032827.6:c.265G>C NP_116216.2:p.Gly89Arg
ENST00000306279.3:c.265G>C ENSP00000304676.3:p.Gly89Arg
ENST00000469442.5:n.519+2592G>C
XM_006712122.2:c.265G>C XP_006712185.1:p.Gly89Arg
XM_006712122.3:c.265G>C XP_006712185.1:p.Gly89Arg
XM_011533139.1:c.265G>C XP_011531441.1:p.Gly89Arg
XM_011533140.1:c.265G>C XP_011531442.1:p.Gly89Arg
XR_001739003.1:n.669G>C
XR_939731.1:n.669G>C
XR_939732.1:n.669G>C
XR_939733.1:n.669G>C
XR_939733.2:n.669G>C