Canonical Allele Identifier: CA2038990288

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765822G= , CM000674.2:g.57765822G=	GRCh38
NC_000012.11:g.58159605G= , CM000674.1:g.58159605G=	GRCh37
NC_000012.10:g.56445872G=	NCBI36
NG_007076.1:g.6372C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+185C=
ENST00000713544.1:c.386+185C=	ENSP00000518840.1:n.386+185C=
ENST00000713545.1:c.386+185C=	ENSP00000518841.1:n.386+185C=
ENST00000228606.9:c.386+185C= MANE Select	ENSP00000228606.4:n.386+185C=
ENST00000228606.8:c.386+185C=	ENSP00000228606.4:n.386+185C=
ENST00000546496.1:n.214+185C=
ENST00000546609.1:c.298+185C=
ENST00000547344.5:n.440+185C=
ENST00000552186.1:n.505+185C=
NM_000785.3:c.386+185C=	NP_000776.1:n.386+185C=
NM_000785.4:c.386+185C= MANE Select	NP_000776.1:n.386+185C=