Canonical Allele Identifier: CA2619517950

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765651-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765651C>A , CM000674.2:g.57765651C>A	GRCh38
NC_000012.11:g.58159434C>A , CM000674.1:g.58159434C>A	GRCh37
NC_000012.10:g.56445701C>A	NCBI36
NG_007076.1:g.6543G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-152G>T
ENST00000713544.1:c.387-71G>T	ENSP00000518840.1:n.387-71G>T
ENST00000713545.1:c.387-94G>T	ENSP00000518841.1:n.387-94G>T
ENST00000228606.9:c.387-152G>T MANE Select	ENSP00000228606.4:n.387-152G>T
ENST00000228606.8:c.387-152G>T	ENSP00000228606.4:n.387-152G>T
ENST00000546496.1:n.215-152G>T
ENST00000546567.5:c.-471G>T	ENSP00000449472.1:n.-471G>T
ENST00000546609.1:c.299-152G>T
ENST00000547344.5:n.441-152G>T
ENST00000547451.1:n.35G>T
ENST00000552186.1:n.506-152G>T
NM_000785.3:c.387-152G>T	NP_000776.1:n.387-152G>T
NM_000785.4:c.387-152G>T MANE Select	NP_000776.1:n.387-152G>T