Canonical Allele Identifier: CA350595570
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219679469C>A (hg19) chr2:g.218814746C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814746C>A , CM000664.2:g.218814746C>A GRCh38
NC_000002.11:g.219679469C>A , CM000664.1:g.219679469C>A GRCh37
NC_000002.10:g.219387713C>A NCBI36
NG_007959.1:g.37998C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1465C>A MANE Select ENSP00000258415.4:p.Leu489Ile
ENST00000258415.8:c.1465C>A ENSP00000258415.4:p.Leu489Ile
ENST00000494263.5:n.2177C>A
NM_000784.3:c.1465C>A NP_000775.1:p.Leu489Ile
XM_017003488.2:c.1045C>A XP_016858977.1:p.Leu349Ile
NM_000784.4:c.1465C>A MANE Select NP_000775.1:p.Leu489Ile
Search 100 bp 5'
Search 100 bp 3'