Canonical Allele Identifier: CA1328916219

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782397T= , CM000664.2:g.218782397T=	GRCh38
NC_000002.11:g.219647120T= , CM000664.1:g.219647120T=	GRCh37
NC_000002.10:g.219355364T=	NCBI36
NG_007959.1:g.5649T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.215T= MANE Select	ENSP00000258415.4:p.Leu72=
ENST00000258415.8:c.215T=	ENSP00000258415.4:p.Leu72=
ENST00000445971.1:c.215T=	ENSP00000404945.1:p.Leu72=
ENST00000466602.1:n.224T=
ENST00000494263.5:n.649T=
NM_000784.3:c.215T=	NP_000775.1:p.Leu72=
XM_017003488.2:c.-15T=	XP_016858977.1:n.-15T=
NM_000784.4:c.215T= MANE Select	NP_000775.1:p.Leu72=