Canonical Allele Identifier: CA2577246441
Gene: CYP27A1 HGNC NCBI

Linked Data

gnomAD v4: 2-218812878-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812878C>A , CM000664.2:g.218812878C>A GRCh38
NC_000002.11:g.219677601C>A , CM000664.1:g.219677601C>A GRCh37
NC_000002.10:g.219385845C>A NCBI36
NG_007959.1:g.36130C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.845-46C>A MANE Select ENSP00000258415.4:n.845-46C>A
ENST00000258415.8:c.845-46C>A ENSP00000258415.4:n.845-46C>A
ENST00000411688.1:c.563-46C>A ENSP00000392671.1:n.563-46C>A
ENST00000445971.1:c.*306-46C>A ENSP00000404945.1:n.*306-46C>A
ENST00000466602.1:n.921C>A
ENST00000494263.5:n.1279-46C>A
NM_000784.3:c.845-46C>A NP_000775.1:n.845-46C>A
XM_017003488.2:c.425-46C>A XP_016858977.1:n.425-46C>A
NM_000784.4:c.845-46C>A MANE Select NP_000775.1:n.845-46C>A
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