Canonical Allele Identifier: CA2754297249
Gene: CYP27A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814005C>A , CM000664.2:g.218814005C>A GRCh38
NC_000002.11:g.219678728C>A , CM000664.1:g.219678728C>A GRCh37
NC_000002.10:g.219386972C>A NCBI36
NG_007959.1:g.37257C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1018-16C>A MANE Select ENSP00000258415.4:n.1018-16C>A
ENST00000258415.8:c.1018-16C>A ENSP00000258415.4:n.1018-16C>A
ENST00000445971.1:c.*479-16C>A ENSP00000404945.1:n.*479-16C>A
ENST00000466602.1:n.1140-16C>A
ENST00000494263.5:n.1452-16C>A
NM_000784.3:c.1018-16C>A NP_000775.1:n.1018-16C>A
XM_017003488.2:c.598-16C>A XP_016858977.1:n.598-16C>A
NM_000784.4:c.1018-16C>A MANE Select NP_000775.1:n.1018-16C>A
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