Canonical Allele Identifier: CA1328929533

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814051C= , CM000664.2:g.218814051C=	GRCh38
NC_000002.11:g.219678774C= , CM000664.1:g.219678774C=	GRCh37
NC_000002.10:g.219387018C=	NCBI36
NG_007959.1:g.37303C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1048C= MANE Select	ENSP00000258415.4:p.His350=
ENST00000258415.8:c.1048C=	ENSP00000258415.4:p.His350=
ENST00000445971.1:c.*509C=	ENSP00000404945.1:n.*509C=
ENST00000466602.1:n.1170C=
ENST00000494263.5:n.1482C=
NM_000784.3:c.1048C=	NP_000775.1:p.His350=
XM_017003488.2:c.628C=	XP_016858977.1:p.His210=
NM_000784.4:c.1048C= MANE Select	NP_000775.1:p.His350=