Canonical Allele Identifier: CA948106879

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955361969
• gnomAD v3: 12-57766495-C-A
• gnomAD v4: 12-57766495-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766495C>A , CM000674.2:g.57766495C>A	GRCh38
NC_000012.11:g.58160278C>A , CM000674.1:g.58160278C>A	GRCh37
NC_000012.10:g.56446545C>A	NCBI36
NG_007076.1:g.5699G>T
NG_047060.1:g.10637G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-298G>T
ENST00000713544.1:c.196-298G>T	ENSP00000518840.1:n.196-298G>T
ENST00000713545.1:c.196-298G>T	ENSP00000518841.1:n.196-298G>T
ENST00000228606.9:c.196-298G>T MANE Select	ENSP00000228606.4:n.196-298G>T
ENST00000228606.8:c.196-298G>T	ENSP00000228606.4:n.196-298G>T
ENST00000546609.1:c.108-298G>T
ENST00000547344.5:n.250-298G>T
ENST00000552186.1:n.17G>T
NM_000785.3:c.196-298G>T	NP_000776.1:n.196-298G>T
NM_000785.4:c.196-298G>T MANE Select	NP_000776.1:n.196-298G>T