Canonical Allele Identifier: CA2038990146

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765754A= , CM000674.2:g.57765754A=	GRCh38
NC_000012.11:g.58159537A= , CM000674.1:g.58159537A=	GRCh37
NC_000012.10:g.56445804A=	NCBI36
NG_007076.1:g.6440T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+253T=
ENST00000713544.1:c.387-174T=	ENSP00000518840.1:n.387-174T=
ENST00000713545.1:c.387-197T=	ENSP00000518841.1:n.387-197T=
ENST00000228606.9:c.386+253T= MANE Select	ENSP00000228606.4:n.386+253T=
ENST00000228606.8:c.386+253T=	ENSP00000228606.4:n.386+253T=
ENST00000546496.1:n.214+253T=
ENST00000546609.1:c.298+253T=
ENST00000547344.5:n.440+253T=
ENST00000552186.1:n.505+253T=
NM_000785.3:c.386+253T=	NP_000776.1:n.386+253T=
NM_000785.4:c.386+253T= MANE Select	NP_000776.1:n.386+253T=