Canonical Allele Identifier: CA431414498
Gene: CYP27A1 HGNC NCBI

Linked Data

gnomAD v4: 2-218812691-C-A
MyVariant Identifiers: chr2:g.219677414C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812691C>A , CM000664.2:g.218812691C>A GRCh38
NC_000002.11:g.219677414C>A , CM000664.1:g.219677414C>A GRCh37
NC_000002.10:g.219385658C>A NCBI36
NG_007959.1:g.35943C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.786C>A MANE Select ENSP00000258415.4:p.Arg262=
ENST00000258415.8:c.786C>A ENSP00000258415.4:p.Arg262=
ENST00000411688.1:c.504C>A ENSP00000392671.1:p.Arg168=
ENST00000445971.1:c.*247C>A ENSP00000404945.1:n.*247C>A
ENST00000466602.1:n.734C>A
ENST00000494263.5:n.1220C>A
NM_000784.3:c.786C>A NP_000775.1:p.Arg262=
XM_017003488.2:c.366C>A XP_016858977.1:p.Arg122=
NM_000784.4:c.786C>A MANE Select NP_000775.1:p.Arg262=
Search 100 bp 5'
Search 100 bp 3'