Canonical Allele Identifier: CA2039015267

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763711G= , CM000674.2:g.57763711G=	GRCh38
NC_000012.11:g.58157494G= , CM000674.1:g.58157494G=	GRCh37
NC_000012.10:g.56443761G=	NCBI36
NG_007076.1:g.8483C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1394C=	ENSP00000518840.1:p.Pro465=
ENST00000713545.1:c.*318C=	ENSP00000518841.1:n.*318C=
ENST00000228606.9:c.1313C= MANE Select	ENSP00000228606.4:p.Pro438=
ENST00000228606.8:c.1313C=	ENSP00000228606.4:p.Pro438=
ENST00000547344.5:n.1452C=
NM_000785.3:c.1313C=	NP_000776.1:p.Pro438=
NM_000785.4:c.1313C= MANE Select	NP_000776.1:p.Pro438=