Canonical Allele Identifier: CA6658350

Gene: CYP27B1

Linked Data

• dbSNP Id: rs770528985
• ExAC: 12:58158864 G / A
• gnomAD v2: 12-58158864-G-A
• gnomAD v4: 12-57765081-G-A
• MyVariant Identifiers: chr12:g.58158864G>A (hg19) ; chr12:g.57765081G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765081G>A , CM000674.2:g.57765081G>A	GRCh38
NC_000012.11:g.58158864G>A , CM000674.1:g.58158864G>A	GRCh37
NC_000012.10:g.56445131G>A	NCBI36
NG_007076.1:g.7113C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.632C>T
ENST00000713544.1:c.801C>T	ENSP00000518840.1:p.His267=
ENST00000713545.1:c.778C>T	ENSP00000518841.1:p.Leu260=
ENST00000228606.9:c.720C>T MANE Select	ENSP00000228606.4:p.His240=
ENST00000228606.8:c.720C>T	ENSP00000228606.4:p.His240=
ENST00000546567.5:c.15C>T	ENSP00000449472.1:p.His5=
ENST00000546609.1:c.632C>T
ENST00000547344.5:n.859C>T
ENST00000547451.1:n.520C>T
NM_000785.3:c.720C>T	NP_000776.1:p.His240=
NM_000785.4:c.720C>T MANE Select	NP_000776.1:p.His240=