Canonical Allele Identifier: CA2038989165

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1361615546
• gnomAD v4: 12-57765264-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765264C>A , CM000674.2:g.57765264C>A	GRCh38
NC_000012.11:g.58159047C>A , CM000674.1:g.58159047C>A	GRCh37
NC_000012.10:g.56445314C>A	NCBI36
NG_007076.1:g.6930G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.501+33G>T
ENST00000713544.1:c.670+33G>T	ENSP00000518840.1:n.670+33G>T
ENST00000713545.1:c.647+33G>T	ENSP00000518841.1:n.647+33G>T
ENST00000228606.9:c.589+33G>T MANE Select	ENSP00000228606.4:n.589+33G>T
ENST00000228606.8:c.589+33G>T	ENSP00000228606.4:n.589+33G>T
ENST00000546567.5:c.-117+33G>T	ENSP00000449472.1:n.-117+33G>T
ENST00000546609.1:c.501+33G>T
ENST00000547344.5:n.676G>T
ENST00000547451.1:n.389+33G>T
NM_000785.3:c.589+33G>T	NP_000776.1:n.589+33G>T
NM_000785.4:c.589+33G>T MANE Select	NP_000776.1:n.589+33G>T