Canonical Allele Identifier: CA1328928886
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812684G= , CM000664.2:g.218812684G= GRCh38
NC_000002.11:g.219677407G= , CM000664.1:g.219677407G= GRCh37
NC_000002.10:g.219385651G= NCBI36
NG_007959.1:g.35936G=

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.779G= MANE Select ENSP00000258415.4:p.Trp260=
ENST00000258415.8:c.779G= ENSP00000258415.4:p.Trp260=
ENST00000411688.1:c.497G= ENSP00000392671.1:p.Trp166=
ENST00000445971.1:c.*240G= ENSP00000404945.1:n.*240G=
ENST00000466602.1:n.727G=
ENST00000494263.5:n.1213G=
NM_000784.3:c.779G= NP_000775.1:p.Trp260=
XM_017003488.2:c.359G= XP_016858977.1:p.Trp120=
NM_000784.4:c.779G= MANE Select NP_000775.1:p.Trp260=