Canonical Allele Identifier: CA2038987712

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764540G= , CM000674.2:g.57764540G=	GRCh38
NC_000012.11:g.58158323G= , CM000674.1:g.58158323G=	GRCh37
NC_000012.10:g.56444590G=	NCBI36
NG_007076.1:g.7654C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1055C=	ENSP00000518840.1:p.Thr352=
ENST00000713545.1:c.1032C=	ENSP00000518841.1:p.His344=
ENST00000228606.9:c.974C= MANE Select	ENSP00000228606.4:p.Thr325=
ENST00000228606.8:c.974C=	ENSP00000228606.4:p.Thr325=
ENST00000546567.5:c.269C=	ENSP00000449472.1:p.Thr90=
ENST00000547344.5:n.1113C=
NM_000785.3:c.974C=	NP_000776.1:p.Thr325=
NM_000785.4:c.974C= MANE Select	NP_000776.1:p.Thr325=