Canonical Allele Identifier: CA2112795
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 809161
dbSNP Id: rs760471205

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814078G>C , CM000664.2:g.218814078G>C GRCh38
NC_000002.11:g.219678801G>C , CM000664.1:g.219678801G>C GRCh37
NC_000002.10:g.219387045G>C NCBI36
NG_007959.1:g.37330G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1075G>C MANE Select ENSP00000258415.4:p.Glu359Gln
ENST00000258415.8:c.1075G>C ENSP00000258415.4:p.Glu359Gln
ENST00000466602.1:n.1197G>C
ENST00000494263.5:n.1509G>C
NM_000784.3:c.1075G>C NP_000775.1:p.Glu359Gln
XM_017003488.2:c.655G>C XP_016858977.1:p.Glu219Gln
NM_000784.4:c.1075G>C MANE Select NP_000775.1:p.Glu359Gln