Canonical Allele Identifier: CA2038988829

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765132G= , CM000674.2:g.57765132G=	GRCh38
NC_000012.11:g.58158915G= , CM000674.1:g.58158915G=	GRCh37
NC_000012.10:g.56445182G=	NCBI36
NG_007076.1:g.7062C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.581C=
ENST00000713544.1:c.750C=	ENSP00000518840.1:p.Arg250=
ENST00000713545.1:c.727C=	ENSP00000518841.1:p.Arg243=
ENST00000228606.9:c.669C= MANE Select	ENSP00000228606.4:p.Arg223=
ENST00000228606.8:c.669C=	ENSP00000228606.4:p.Arg223=
ENST00000546567.5:c.-37C=	ENSP00000449472.1:n.-37C=
ENST00000546609.1:c.581C=
ENST00000547344.5:n.808C=
ENST00000547451.1:n.469C=
NM_000785.3:c.669C=	NP_000776.1:p.Arg223=
NM_000785.4:c.669C= MANE Select	NP_000776.1:p.Arg223=