Canonical Allele Identifier: CA2038988680

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765081G= , CM000674.2:g.57765081G=	GRCh38
NC_000012.11:g.58158864G= , CM000674.1:g.58158864G=	GRCh37
NC_000012.10:g.56445131G=	NCBI36
NG_007076.1:g.7113C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.632C=
ENST00000713544.1:c.801C=	ENSP00000518840.1:p.His267=
ENST00000713545.1:c.778C=	ENSP00000518841.1:p.Leu260=
ENST00000228606.9:c.720C= MANE Select	ENSP00000228606.4:p.His240=
ENST00000228606.8:c.720C=	ENSP00000228606.4:p.His240=
ENST00000546567.5:c.15C=	ENSP00000449472.1:p.His5=
ENST00000546609.1:c.632C=
ENST00000547344.5:n.859C=
ENST00000547451.1:n.520C=
NM_000785.3:c.720C=	NP_000776.1:p.His240=
NM_000785.4:c.720C= MANE Select	NP_000776.1:p.His240=