Canonical Allele Identifier: CA1328929541
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814066C= , CM000664.2:g.218814066C= GRCh38
NC_000002.11:g.219678789C= , CM000664.1:g.219678789C= GRCh37
NC_000002.10:g.219387033C= NCBI36
NG_007959.1:g.37318C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1063C= MANE Select ENSP00000258415.4:p.Pro355=
ENST00000258415.8:c.1063C= ENSP00000258415.4:p.Pro355=
ENST00000445971.1:c.*524C= ENSP00000404945.1:n.*524C=
ENST00000466602.1:n.1185C=
ENST00000494263.5:n.1497C=
NM_000784.3:c.1063C= NP_000775.1:p.Pro355=
XM_017003488.2:c.643C= XP_016858977.1:p.Pro215=
NM_000784.4:c.1063C= MANE Select NP_000775.1:p.Pro355=