Canonical Allele Identifier: CA2112713
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1284558
ClinVar RCV Id: RCV001699978 RCV001866266 RCV002538630 RCV003394217
dbSNP Id: rs778371330
ExAC: 2:219677412 C / T
gnomAD v2: 2-219677412-C-T
gnomAD v3: 2-218812689-C-T
gnomAD v4: 2-218812689-C-T
MyVariant Identifiers: chr2:g.219677412C>T (hg19) chr2:g.218812689C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812689C>T , CM000664.2:g.218812689C>T GRCh38
NC_000002.11:g.219677412C>T , CM000664.1:g.219677412C>T GRCh37
NC_000002.10:g.219385656C>T NCBI36
NG_007959.1:g.35941C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.784C>T MANE Select ENSP00000258415.4:p.Arg262Cys
ENST00000258415.8:c.784C>T ENSP00000258415.4:p.Arg262Cys
ENST00000411688.1:c.502C>T ENSP00000392671.1:p.Arg168Cys
ENST00000445971.1:c.*245C>T ENSP00000404945.1:n.*245C>T
ENST00000466602.1:n.732C>T
ENST00000494263.5:n.1218C>T
NM_000784.3:c.784C>T NP_000775.1:p.Arg262Cys
XM_017003488.2:c.364C>T XP_016858977.1:p.Arg122Cys
NM_000784.4:c.784C>T MANE Select NP_000775.1:p.Arg262Cys
Search 100 bp 5'
Search 100 bp 3'