Canonical Allele Identifier: CA350595548
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219679466C>G (hg19) chr2:g.218814743C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814743C>G , CM000664.2:g.218814743C>G GRCh38
NC_000002.11:g.219679466C>G , CM000664.1:g.219679466C>G GRCh37
NC_000002.10:g.219387710C>G NCBI36
NG_007959.1:g.37995C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1462C>G MANE Select ENSP00000258415.4:p.Leu488Val
ENST00000258415.8:c.1462C>G ENSP00000258415.4:p.Leu488Val
ENST00000494263.5:n.2174C>G
NM_000784.3:c.1462C>G NP_000775.1:p.Leu488Val
XM_017003488.2:c.1042C>G XP_016858977.1:p.Leu348Val
NM_000784.4:c.1462C>G MANE Select NP_000775.1:p.Leu488Val
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