Canonical Allele Identifier: CA2619517962

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765656-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765656A>G , CM000674.2:g.57765656A>G	GRCh38
NC_000012.11:g.58159439A>G , CM000674.1:g.58159439A>G	GRCh37
NC_000012.10:g.56445706A>G	NCBI36
NG_007076.1:g.6538T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-157T>C
ENST00000713544.1:c.387-76T>C	ENSP00000518840.1:n.387-76T>C
ENST00000713545.1:c.387-99T>C	ENSP00000518841.1:n.387-99T>C
ENST00000228606.9:c.387-157T>C MANE Select	ENSP00000228606.4:n.387-157T>C
ENST00000228606.8:c.387-157T>C	ENSP00000228606.4:n.387-157T>C
ENST00000546496.1:n.215-157T>C
ENST00000546567.5:c.-476T>C	ENSP00000449472.1:n.-476T>C
ENST00000546609.1:c.299-157T>C
ENST00000547344.5:n.441-157T>C
ENST00000547451.1:n.30T>C
ENST00000552186.1:n.506-157T>C
NM_000785.3:c.387-157T>C	NP_000776.1:n.387-157T>C
NM_000785.4:c.387-157T>C MANE Select	NP_000776.1:n.387-157T>C