Canonical Allele Identifier: CA2112808
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1387460
ClinVar RCV Id: RCV001884065
dbSNP Id: rs536176295
ExAC: 2:219678843 C / A
gnomAD v2: 2-219678843-C-A
gnomAD v3: 2-218814120-C-A
gnomAD v4: 2-218814120-C-A
MyVariant Identifiers: chr2:g.219678843C>A (hg19) chr2:g.218814120C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814120C>A , CM000664.2:g.218814120C>A GRCh38
NC_000002.11:g.219678843C>A , CM000664.1:g.219678843C>A GRCh37
NC_000002.10:g.219387087C>A NCBI36
NG_007959.1:g.37372C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1117C>A MANE Select ENSP00000258415.4:p.Gln373Lys
ENST00000258415.8:c.1117C>A ENSP00000258415.4:p.Gln373Lys
ENST00000494263.5:n.1551C>A
NM_000784.3:c.1117C>A NP_000775.1:p.Gln373Lys
XM_017003488.2:c.697C>A XP_016858977.1:p.Gln233Lys
NM_000784.4:c.1117C>A MANE Select NP_000775.1:p.Gln373Lys
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