Canonical Allele Identifier: CA350594224
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219679336C>G (hg19) chr2:g.218814613C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814613C>G , CM000664.2:g.218814613C>G GRCh38
NC_000002.11:g.219679336C>G , CM000664.1:g.219679336C>G GRCh37
NC_000002.10:g.219387580C>G NCBI36
NG_007959.1:g.37865C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1332C>G MANE Select ENSP00000258415.4:p.Phe444Leu
ENST00000258415.8:c.1332C>G ENSP00000258415.4:p.Phe444Leu
ENST00000494263.5:n.2044C>G
NM_000784.3:c.1332C>G NP_000775.1:p.Phe444Leu
XM_017003488.2:c.912C>G XP_016858977.1:p.Phe304Leu
NM_000784.4:c.1332C>G MANE Select NP_000775.1:p.Phe444Leu
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