Canonical Allele Identifier: CA2038988848

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765142G= , CM000674.2:g.57765142G=	GRCh38
NC_000012.11:g.58158925G= , CM000674.1:g.58158925G=	GRCh37
NC_000012.10:g.56445192G=	NCBI36
NG_007076.1:g.7052C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.571C=
ENST00000713544.1:c.740C=	ENSP00000518840.1:p.Thr247=
ENST00000713545.1:c.717C=	ENSP00000518841.1:p.Asp239=
ENST00000228606.9:c.659C= MANE Select	ENSP00000228606.4:p.Thr220=
ENST00000228606.8:c.659C=	ENSP00000228606.4:p.Thr220=
ENST00000546567.5:c.-47C=	ENSP00000449472.1:n.-47C=
ENST00000546609.1:c.571C=
ENST00000547344.5:n.798C=
ENST00000547451.1:n.459C=
NM_000785.3:c.659C=	NP_000776.1:p.Thr220=
NM_000785.4:c.659C= MANE Select	NP_000776.1:p.Thr220=