Canonical Allele Identifier: CA385505404

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765148-G-A
• MyVariant Identifiers: chr12:g.58158931G>A (hg19) ; chr12:g.57765148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765148G>A , CM000674.2:g.57765148G>A	GRCh38
NC_000012.11:g.58158931G>A , CM000674.1:g.58158931G>A	GRCh37
NC_000012.10:g.56445198G>A	NCBI36
NG_007076.1:g.7046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.565C>T
ENST00000713544.1:c.734C>T	ENSP00000518840.1:p.Thr245Met
ENST00000713545.1:c.711C>T	ENSP00000518841.1:p.His237=
ENST00000228606.9:c.653C>T MANE Select	ENSP00000228606.4:p.Thr218Met
ENST00000228606.8:c.653C>T	ENSP00000228606.4:p.Thr218Met
ENST00000546567.5:c.-53C>T	ENSP00000449472.1:n.-53C>T
ENST00000546609.1:c.565C>T
ENST00000547344.5:n.792C>T
ENST00000547451.1:n.453C>T
NM_000785.3:c.653C>T	NP_000776.1:p.Thr218Met
NM_000785.4:c.653C>T MANE Select	NP_000776.1:p.Thr218Met