Canonical Allele Identifier: CA2112807
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291259
dbSNP Id: rs369969903

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814117G>A , CM000664.2:g.218814117G>A GRCh38
NC_000002.11:g.219678840G>A , CM000664.1:g.219678840G>A GRCh37
NC_000002.10:g.219387084G>A NCBI36
NG_007959.1:g.37369G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1114G>A MANE Select ENSP00000258415.4:p.Gly372Arg
ENST00000258415.8:c.1114G>A ENSP00000258415.4:p.Gly372Arg
ENST00000494263.5:n.1548G>A
NM_000784.3:c.1114G>A NP_000775.1:p.Gly372Arg
XM_017003488.2:c.694G>A XP_016858977.1:p.Gly232Arg
NM_000784.4:c.1114G>A MANE Select NP_000775.1:p.Gly372Arg