Canonical Allele Identifier: CA1328928788
Gene: CYP27A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812495C= , CM000664.2:g.218812495C= GRCh38
NC_000002.11:g.219677218C= , CM000664.1:g.219677218C= GRCh37
NC_000002.10:g.219385462C= NCBI36
NG_007959.1:g.35747C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.647-57C= MANE Select ENSP00000258415.4:n.647-57C=
ENST00000258415.8:c.647-57C= ENSP00000258415.4:n.647-57C=
ENST00000411688.1:c.365-57C= ENSP00000392671.1:n.365-57C=
ENST00000445971.1:c.*108-57C= ENSP00000404945.1:n.*108-57C=
ENST00000466602.1:n.538C=
ENST00000494263.5:n.1081-57C=
NM_000784.3:c.647-57C= NP_000775.1:n.647-57C=
XM_017003488.2:c.227-57C= XP_016858977.1:n.227-57C=
NM_000784.4:c.647-57C= MANE Select NP_000775.1:n.647-57C=
Search 100 bp 5'
Search 100 bp 3'