Canonical Allele Identifier: CA350587042
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677403A>C (hg19) chr2:g.218812680A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812680A>C , CM000664.2:g.218812680A>C GRCh38
NC_000002.11:g.219677403A>C , CM000664.1:g.219677403A>C GRCh37
NC_000002.10:g.219385647A>C NCBI36
NG_007959.1:g.35932A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.775A>C MANE Select ENSP00000258415.4:p.Lys259Gln
ENST00000258415.8:c.775A>C ENSP00000258415.4:p.Lys259Gln
ENST00000411688.1:c.493A>C ENSP00000392671.1:p.Lys165Gln
ENST00000445971.1:c.*236A>C ENSP00000404945.1:n.*236A>C
ENST00000466602.1:n.723A>C
ENST00000494263.5:n.1209A>C
NM_000784.3:c.775A>C NP_000775.1:p.Lys259Gln
XM_017003488.2:c.355A>C XP_016858977.1:p.Lys119Gln
NM_000784.4:c.775A>C MANE Select NP_000775.1:p.Lys259Gln
Search 100 bp 5'
Search 100 bp 3'