Canonical Allele Identifier: CA340217
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4261
ClinVar RCV Id: RCV000004483
dbSNP Id: rs121908096
ExAC: 2:219678909 C / A
gnomAD v2: 2-219678909-C-A
gnomAD v4: 2-218814186-C-A
MyVariant Identifiers: chr2:g.219678909C>A (hg19) chr2:g.218814186C>A (hg38)
PubMed: PMID:9790667 PMID:20301583
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814186C>A , CM000664.2:g.218814186C>A GRCh38
NC_000002.11:g.219678909C>A , CM000664.1:g.219678909C>A GRCh37
NC_000002.10:g.219387153C>A NCBI36
NG_007959.1:g.37438C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1183C>A MANE Select ENSP00000258415.4:p.Arg395Ser
ENST00000258415.8:c.1183C>A ENSP00000258415.4:p.Arg395Ser
ENST00000494263.5:n.1617C>A
NM_000784.3:c.1183C>A NP_000775.1:p.Arg395Ser
XM_017003488.2:c.763C>A XP_016858977.1:p.Arg255Ser
NM_000784.4:c.1183C>A MANE Select NP_000775.1:p.Arg395Ser
Search 100 bp 5'
Search 100 bp 3'