Canonical Allele Identifier: CA1328916396
Gene: CYP27A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782786C= , CM000664.2:g.218782786C= GRCh38
NC_000002.11:g.219647509C= , CM000664.1:g.219647509C= GRCh37
NC_000002.10:g.219355753C= NCBI36
NG_007959.1:g.6038C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.255+349C= MANE Select ENSP00000258415.4:n.255+349C=
ENST00000258415.8:c.255+349C= ENSP00000258415.4:n.255+349C=
ENST00000445971.1:c.255+349C= ENSP00000404945.1:n.255+349C=
ENST00000466602.1:n.264+349C=
ENST00000494263.5:n.689+349C=
NM_000784.3:c.255+349C= NP_000775.1:n.255+349C=
XM_017003488.2:c.26+349C= XP_016858977.1:n.26+349C=
NM_000784.4:c.255+349C= MANE Select NP_000775.1:n.255+349C=
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