Canonical Allele Identifier: CA385505173

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765034-T-A
• MyVariant Identifiers: chr12:g.58158817T>A (hg19) ; chr12:g.57765034T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765034T>A , CM000674.2:g.57765034T>A	GRCh38
NC_000012.11:g.58158817T>A , CM000674.1:g.58158817T>A	GRCh37
NC_000012.10:g.56445084T>A	NCBI36
NG_007076.1:g.7160A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.679A>T
ENST00000713544.1:c.848A>T	ENSP00000518840.1:p.Asp283Val
ENST00000713545.1:c.825A>T	ENSP00000518841.1:p.Arg275Ser
ENST00000228606.9:c.767A>T MANE Select	ENSP00000228606.4:p.Asp256Val
ENST00000228606.8:c.767A>T	ENSP00000228606.4:p.Asp256Val
ENST00000546567.5:c.62A>T	ENSP00000449472.1:p.Asp21Val
ENST00000546609.1:c.679A>T
ENST00000547344.5:n.906A>T
ENST00000547451.1:n.567A>T
NM_000785.3:c.767A>T	NP_000776.1:p.Asp256Val
NM_000785.4:c.767A>T MANE Select	NP_000776.1:p.Asp256Val