Canonical Allele Identifier: CA2619518264

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765736-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765736T>G , CM000674.2:g.57765736T>G	GRCh38
NC_000012.11:g.58159519T>G , CM000674.1:g.58159519T>G	GRCh37
NC_000012.10:g.56445786T>G	NCBI36
NG_007076.1:g.6458A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-237A>C
ENST00000713544.1:c.387-156A>C	ENSP00000518840.1:n.387-156A>C
ENST00000713545.1:c.387-179A>C	ENSP00000518841.1:n.387-179A>C
ENST00000228606.9:c.387-237A>C MANE Select	ENSP00000228606.4:n.387-237A>C
ENST00000228606.8:c.387-237A>C	ENSP00000228606.4:n.387-237A>C
ENST00000546496.1:n.215-237A>C
ENST00000546609.1:c.299-237A>C
ENST00000547344.5:n.441-237A>C
ENST00000552186.1:n.506-237A>C
NM_000785.3:c.387-237A>C	NP_000776.1:n.387-237A>C
NM_000785.4:c.387-237A>C MANE Select	NP_000776.1:n.387-237A>C