Canonical Allele Identifier: CA1328929508
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218813989G= , CM000664.2:g.218813989G= GRCh38
NC_000002.11:g.219678712G= , CM000664.1:g.219678712G= GRCh37
NC_000002.10:g.219386956G= NCBI36
NG_007959.1:g.37241G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1018-32G= MANE Select ENSP00000258415.4:n.1018-32G=
ENST00000258415.8:c.1018-32G= ENSP00000258415.4:n.1018-32G=
ENST00000445971.1:c.*479-32G= ENSP00000404945.1:n.*479-32G=
ENST00000466602.1:n.1140-32G=
ENST00000494263.5:n.1452-32G=
NM_000784.3:c.1018-32G= NP_000775.1:n.1018-32G=
XM_017003488.2:c.598-32G= XP_016858977.1:n.598-32G=
NM_000784.4:c.1018-32G= MANE Select NP_000775.1:n.1018-32G=