Canonical Allele Identifier: CA385509564

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58159964T>G (hg19) ; chr12:g.57766181T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766181T>G , CM000674.2:g.57766181T>G	GRCh38
NC_000012.11:g.58159964T>G , CM000674.1:g.58159964T>G	GRCh37
NC_000012.10:g.56446231T>G	NCBI36
NG_007076.1:g.6013A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.124A>C
ENST00000713544.1:c.212A>C	ENSP00000518840.1:p.His71Pro
ENST00000713545.1:c.212A>C	ENSP00000518841.1:p.His71Pro
ENST00000228606.9:c.212A>C MANE Select	ENSP00000228606.4:p.His71Pro
ENST00000228606.8:c.212A>C	ENSP00000228606.4:p.His71Pro
ENST00000546496.1:n.40A>C
ENST00000546609.1:c.124A>C
ENST00000547344.5:n.266A>C
ENST00000552186.1:n.331A>C
NM_000785.3:c.212A>C	NP_000776.1:p.His71Pro
NM_000785.4:c.212A>C MANE Select	NP_000776.1:p.His71Pro