Canonical Allele Identifier: CA340216
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4260
dbSNP Id: rs121908099

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814409G>A , CM000664.2:g.218814409G>A GRCh38
NC_000002.11:g.219679132G>A , CM000664.1:g.219679132G>A GRCh37
NC_000002.10:g.219387376G>A NCBI36
NG_007959.1:g.37661G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1214G>A MANE Select ENSP00000258415.4:p.Arg405Gln
ENST00000258415.8:c.1214G>A ENSP00000258415.4:p.Arg405Gln
ENST00000494263.5:n.1840G>A
NM_000784.3:c.1214G>A NP_000775.1:p.Arg405Gln
XM_017003488.2:c.794G>A XP_016858977.1:p.Arg265Gln
NM_000784.4:c.1214G>A MANE Select NP_000775.1:p.Arg405Gln