Canonical Allele Identifier: CA2619518173

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765704-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765707dup , CM000674.2:g.57765707dup	GRCh38
NC_000012.11:g.58159490dup , CM000674.1:g.58159490dup	GRCh37
NC_000012.10:g.56445757dup	NCBI36
NG_007076.1:g.6489dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-206dup
ENST00000713544.1:c.387-125dup	ENSP00000518840.1:n.387-125dup
ENST00000713545.1:c.387-148dup	ENSP00000518841.1:n.387-148dup
ENST00000228606.9:c.387-206dup MANE Select	ENSP00000228606.4:n.387-206dup
ENST00000228606.8:c.387-206dup	ENSP00000228606.4:n.387-206dup
ENST00000546496.1:n.215-206dup
ENST00000546609.1:c.299-206dup
ENST00000547344.5:n.441-206dup
ENST00000552186.1:n.506-206dup
NM_000785.3:c.387-206dup	NP_000776.1:n.387-206dup
NM_000785.4:c.387-206dup MANE Select	NP_000776.1:n.387-206dup