Canonical Allele Identifier: CA385505147

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158807C>A (hg19) ; chr12:g.57765024C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765024C>A , CM000674.2:g.57765024C>A	GRCh38
NC_000012.11:g.58158807C>A , CM000674.1:g.58158807C>A	GRCh37
NC_000012.10:g.56445074C>A	NCBI36
NG_007076.1:g.7170G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.689G>T
ENST00000713544.1:c.858G>T	ENSP00000518840.1:p.Gln286His
ENST00000713545.1:c.835G>T	ENSP00000518841.1:p.Asp279Tyr
ENST00000228606.9:c.777G>T MANE Select	ENSP00000228606.4:p.Gln259His
ENST00000228606.8:c.777G>T	ENSP00000228606.4:p.Gln259His
ENST00000546567.5:c.72G>T	ENSP00000449472.1:p.Gln24His
ENST00000546609.1:c.689G>T
ENST00000547344.5:n.916G>T
ENST00000547451.1:n.577G>T
NM_000785.3:c.777G>T	NP_000776.1:p.Gln259His
NM_000785.4:c.777G>T MANE Select	NP_000776.1:p.Gln259His