Canonical Allele Identifier: CA1328928837

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812592G= , CM000664.2:g.218812592G=	GRCh38
NC_000002.11:g.219677315G= , CM000664.1:g.219677315G=	GRCh37
NC_000002.10:g.219385559G=	NCBI36
NG_007959.1:g.35844G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000258415.9:c.687G= MANE Select	ENSP00000258415.4:p.Leu229=
ENST00000258415.8:c.687G=	ENSP00000258415.4:p.Leu229=
ENST00000411688.1:c.405G=	ENSP00000392671.1:p.Leu135=
ENST00000445971.1:c.*148G=	ENSP00000404945.1:n.*148G=
ENST00000466602.1:n.635G=
ENST00000494263.5:n.1121G=
NM_000784.3:c.687G=	NP_000775.1:p.Leu229=
XM_017003488.2:c.267G=	XP_016858977.1:p.Leu89=
NM_000784.4:c.687G= MANE Select	NP_000775.1:p.Leu229=