Canonical Allele Identifier: CA2112813
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1077259
ClinVar RCV Id: RCV001391795 RCV002350736
dbSNP Id: rs373428306
ExAC: 2:219678878 G / A
gnomAD v2: 2-219678878-G-A
gnomAD v3: 2-218814155-G-A
gnomAD v4: 2-218814155-G-A
MyVariant Identifiers: chr2:g.219678878G>A (hg19) chr2:g.218814155G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814155G>A , CM000664.2:g.218814155G>A GRCh38
NC_000002.11:g.219678878G>A , CM000664.1:g.219678878G>A GRCh37
NC_000002.10:g.219387122G>A NCBI36
NG_007959.1:g.37407G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1152G>A MANE Select ENSP00000258415.4:p.Pro384=
ENST00000258415.8:c.1152G>A ENSP00000258415.4:p.Pro384=
ENST00000494263.5:n.1586G>A
NM_000784.3:c.1152G>A NP_000775.1:p.Pro384=
XM_017003488.2:c.732G>A XP_016858977.1:p.Pro244=
NM_000784.4:c.1152G>A MANE Select NP_000775.1:p.Pro384=
Search 100 bp 5'
Search 100 bp 3'