Canonical Allele Identifier: CA431234149
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2565610
ClinVar RCV Id: RCV003288541
gnomAD v4: 2-218814059-A-C
MyVariant Identifiers: chr2:g.219678782A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814059A>C , CM000664.2:g.218814059A>C GRCh38
NC_000002.11:g.219678782A>C , CM000664.1:g.219678782A>C GRCh37
NC_000002.10:g.219387026A>C NCBI36
NG_007959.1:g.37311A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1056A>C MANE Select ENSP00000258415.4:p.Ser352=
ENST00000258415.8:c.1056A>C ENSP00000258415.4:p.Ser352=
ENST00000445971.1:c.*517A>C ENSP00000404945.1:n.*517A>C
ENST00000466602.1:n.1178A>C
ENST00000494263.5:n.1490A>C
NM_000784.3:c.1056A>C NP_000775.1:p.Ser352=
XM_017003488.2:c.636A>C XP_016858977.1:p.Ser212=
NM_000784.4:c.1056A>C MANE Select NP_000775.1:p.Ser352=
Search 100 bp 5'
Search 100 bp 3'