Canonical Allele Identifier: CA2038987534

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764465G= , CM000674.2:g.57764465G=	GRCh38
NC_000012.11:g.58158248G= , CM000674.1:g.58158248G=	GRCh37
NC_000012.10:g.56444515G=	NCBI36
NG_007076.1:g.7729C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1130C=	ENSP00000518840.1:p.Ala377=
ENST00000713545.1:c.*54C=	ENSP00000518841.1:n.*54C=
ENST00000228606.9:c.1049C= MANE Select	ENSP00000228606.4:p.Ala350=
ENST00000228606.8:c.1049C=	ENSP00000228606.4:p.Ala350=
ENST00000546567.5:c.344C=	ENSP00000449472.1:p.Ala115=
ENST00000547344.5:n.1188C=
NM_000785.3:c.1049C=	NP_000776.1:p.Ala350=
NM_000785.4:c.1049C= MANE Select	NP_000776.1:p.Ala350=