Canonical Allele Identifier: CA350595581
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219679470T>G (hg19) chr2:g.218814747T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814747T>G , CM000664.2:g.218814747T>G GRCh38
NC_000002.11:g.219679470T>G , CM000664.1:g.219679470T>G GRCh37
NC_000002.10:g.219387714T>G NCBI36
NG_007959.1:g.37999T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1466T>G MANE Select ENSP00000258415.4:p.Leu489Arg
ENST00000258415.8:c.1466T>G ENSP00000258415.4:p.Leu489Arg
ENST00000494263.5:n.2178T>G
NM_000784.3:c.1466T>G NP_000775.1:p.Leu489Arg
XM_017003488.2:c.1046T>G XP_016858977.1:p.Leu349Arg
NM_000784.4:c.1466T>G MANE Select NP_000775.1:p.Leu489Arg
Search 100 bp 5'
Search 100 bp 3'