Canonical Allele Identifier: CA948106852

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955361345
• gnomAD v3: 12-57766430-G-A
• gnomAD v4: 12-57766430-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766430G>A , CM000674.2:g.57766430G>A	GRCh38
NC_000012.11:g.58160213G>A , CM000674.1:g.58160213G>A	GRCh37
NC_000012.10:g.56446480G>A	NCBI36
NG_007076.1:g.5764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-233C>T
ENST00000713544.1:c.196-233C>T	ENSP00000518840.1:n.196-233C>T
ENST00000713545.1:c.196-233C>T	ENSP00000518841.1:n.196-233C>T
ENST00000228606.9:c.196-233C>T MANE Select	ENSP00000228606.4:n.196-233C>T
ENST00000228606.8:c.196-233C>T	ENSP00000228606.4:n.196-233C>T
ENST00000546496.1:n.23+4C>T
ENST00000546609.1:c.108-233C>T
ENST00000547344.5:n.250-233C>T
ENST00000552186.1:n.82C>T
NM_000785.3:c.196-233C>T	NP_000776.1:n.196-233C>T
NM_000785.4:c.196-233C>T MANE Select	NP_000776.1:n.196-233C>T