Canonical Allele Identifier: CA948106860

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955361592
• gnomAD v3: 12-57766452-C-G
• gnomAD v4: 12-57766452-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766452C>G , CM000674.2:g.57766452C>G	GRCh38
NC_000012.11:g.58160235C>G , CM000674.1:g.58160235C>G	GRCh37
NC_000012.10:g.56446502C>G	NCBI36
NG_007076.1:g.5742G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-255G>C
ENST00000713544.1:c.196-255G>C	ENSP00000518840.1:n.196-255G>C
ENST00000713545.1:c.196-255G>C	ENSP00000518841.1:n.196-255G>C
ENST00000228606.9:c.196-255G>C MANE Select	ENSP00000228606.4:n.196-255G>C
ENST00000228606.8:c.196-255G>C	ENSP00000228606.4:n.196-255G>C
ENST00000546496.1:n.5G>C
ENST00000546609.1:c.108-255G>C
ENST00000547344.5:n.250-255G>C
ENST00000552186.1:n.60G>C
NM_000785.3:c.196-255G>C	NP_000776.1:n.196-255G>C
NM_000785.4:c.196-255G>C MANE Select	NP_000776.1:n.196-255G>C