Canonical Allele Identifier: CA14876551
Gene: CHODL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.18109036G>A , CM000683.2:g.18109036G>A GRCh38
NC_000021.8:g.19481354G>A , CM000683.1:g.19481354G>A GRCh37
NC_000021.7:g.18403225G>A NCBI36
NG_029478.1:g.196698G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400127.5:c.-45+81065G>A ENSP00000382992.1:n.-45+81065G>A
ENST00000400128.5:c.-44-147473G>A ENSP00000382993.1:n.-44-147473G>A
ENST00000400131.5:c.-44-147473G>A ENSP00000382996.1:n.-44-147473G>A
ENST00000400135.5:c.-45+81065G>A ENSP00000383001.1:n.-45+81065G>A
NM_001204175.1:c.-44-147473G>A NP_001191104.1:n.-44-147473G>A
NM_001204176.1:c.-45+81065G>A NP_001191105.1:n.-45+81065G>A
NM_001204177.1:c.-44-147473G>A NP_001191106.1:n.-44-147473G>A
NM_001204178.1:c.-45+81065G>A NP_001191107.1:n.-45+81065G>A
XM_011529455.1:c.-44-147473G>A XP_011527757.1:n.-44-147473G>A
XM_011529456.1:c.-45+81065G>A XP_011527758.1:n.-45+81065G>A
XM_011529457.1:c.-44-147473G>A XP_011527759.1:n.-44-147473G>A
XM_011529457.2:c.-44-147473G>A XP_011527759.1:n.-44-147473G>A
NM_001204175.2:c.-44-147473G>A NP_001191104.1:n.-44-147473G>A
NM_001204176.2:c.-45+81065G>A NP_001191105.1:n.-45+81065G>A
NM_001204177.2:c.-44-147473G>A NP_001191106.1:n.-44-147473G>A
NM_001204178.2:c.-45+81065G>A NP_001191107.1:n.-45+81065G>A