Canonical Allele Identifier: CA2379656659
Gene: CHODL HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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