Canonical Allele Identifier: CA350587109
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677412C>A (hg19) chr2:g.218812689C>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.784C>A MANE Select ENSP00000258415.4:p.Arg262Ser
ENST00000258415.8:c.784C>A ENSP00000258415.4:p.Arg262Ser
ENST00000411688.1:c.502C>A ENSP00000392671.1:p.Arg168Ser
ENST00000445971.1:c.*245C>A ENSP00000404945.1:n.*245C>A
ENST00000466602.1:n.732C>A
ENST00000494263.5:n.1218C>A
NM_000784.3:c.784C>A NP_000775.1:p.Arg262Ser
XM_017003488.2:c.364C>A XP_016858977.1:p.Arg122Ser
NM_000784.4:c.784C>A MANE Select NP_000775.1:p.Arg262Ser
Search 100 bp 5'
Search 100 bp 3'