Canonical Allele Identifier: CA1328928905

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812714G= , CM000664.2:g.218812714G=	GRCh38
NC_000002.11:g.219677437G= , CM000664.1:g.219677437G=	GRCh37
NC_000002.10:g.219385681G=	NCBI36
NG_007959.1:g.35966G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.809G= MANE Select	ENSP00000258415.4:p.Arg270=
ENST00000258415.8:c.809G=	ENSP00000258415.4:p.Arg270=
ENST00000411688.1:c.527G=	ENSP00000392671.1:p.Arg176=
ENST00000445971.1:c.*270G=	ENSP00000404945.1:n.*270G=
ENST00000466602.1:n.757G=
ENST00000494263.5:n.1243G=
NM_000784.3:c.809G=	NP_000775.1:p.Arg270=
XM_017003488.2:c.389G=	XP_016858977.1:p.Arg130=
NM_000784.4:c.809G= MANE Select	NP_000775.1:p.Arg270=