Canonical Allele Identifier: CA10614327
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 334364
ClinVar RCV Id: RCV000281692 RCV001549986
dbSNP Id: rs187723732
gnomAD v2: 2-219646701-C-A
gnomAD v3: 2-218781978-C-A
gnomAD v4: 2-218781978-C-A
MyVariant Identifiers: chr2:g.219646701C>A (hg19) chr2:g.218781978C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218781978C>A , CM000664.2:g.218781978C>A GRCh38
NC_000002.11:g.219646701C>A , CM000664.1:g.219646701C>A GRCh37
NC_000002.10:g.219354945C>A NCBI36
NG_007959.1:g.5230C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.8:c.-205C>A ENSP00000258415.4:n.-205C>A
ENST00000494263.5:n.230C>A
NM_000784.3:c.-205C>A NP_000775.1:n.-205C>A
XM_017003488.2:c.-434C>A XP_016858977.1:n.-434C>A
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