Canonical Allele Identifier: CA2038987544

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764471G= , CM000674.2:g.57764471G=	GRCh38
NC_000012.11:g.58158254G= , CM000674.1:g.58158254G=	GRCh37
NC_000012.10:g.56444521G=	NCBI36
NG_007076.1:g.7723C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1124C=	ENSP00000518840.1:p.Thr375=
ENST00000713545.1:c.*48C=	ENSP00000518841.1:n.*48C=
ENST00000228606.9:c.1043C= MANE Select	ENSP00000228606.4:p.Thr348=
ENST00000228606.8:c.1043C=	ENSP00000228606.4:p.Thr348=
ENST00000546567.5:c.338C=	ENSP00000449472.1:p.Thr113=
ENST00000547344.5:n.1182C=
NM_000785.3:c.1043C=	NP_000776.1:p.Thr348=
NM_000785.4:c.1043C= MANE Select	NP_000776.1:p.Thr348=