Canonical Allele Identifier: CA385505370

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765133-C-T
• MyVariant Identifiers: chr12:g.58158916C>T (hg19) ; chr12:g.57765133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765133C>T , CM000674.2:g.57765133C>T	GRCh38
NC_000012.11:g.58158916C>T , CM000674.1:g.58158916C>T	GRCh37
NC_000012.10:g.56445183C>T	NCBI36
NG_007076.1:g.7061G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.580G>A
ENST00000713544.1:c.749G>A	ENSP00000518840.1:p.Arg250His
ENST00000713545.1:c.726G>A	ENSP00000518841.1:p.Pro242=
ENST00000228606.9:c.668G>A MANE Select	ENSP00000228606.4:p.Arg223His
ENST00000228606.8:c.668G>A	ENSP00000228606.4:p.Arg223His
ENST00000546567.5:c.-38G>A	ENSP00000449472.1:n.-38G>A
ENST00000546609.1:c.580G>A
ENST00000547344.5:n.807G>A
ENST00000547451.1:n.468G>A
NM_000785.3:c.668G>A	NP_000776.1:p.Arg223His
NM_000785.4:c.668G>A MANE Select	NP_000776.1:p.Arg223His