Canonical Allele Identifier: CA350591219
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219678752C>G (hg19) chr2:g.218814029C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814029C>G , CM000664.2:g.218814029C>G GRCh38
NC_000002.11:g.219678752C>G , CM000664.1:g.219678752C>G GRCh37
NC_000002.10:g.219386996C>G NCBI36
NG_007959.1:g.37281C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1026C>G MANE Select ENSP00000258415.4:p.Asn342Lys
ENST00000258415.8:c.1026C>G ENSP00000258415.4:p.Asn342Lys
ENST00000445971.1:c.*487C>G ENSP00000404945.1:n.*487C>G
ENST00000466602.1:n.1148C>G
ENST00000494263.5:n.1460C>G
NM_000784.3:c.1026C>G NP_000775.1:p.Asn342Lys
XM_017003488.2:c.606C>G XP_016858977.1:p.Asn202Lys
NM_000784.4:c.1026C>G MANE Select NP_000775.1:p.Asn342Lys
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