Canonical Allele Identifier: CA385505369

Gene: CYP27B1

Linked Data

• dbSNP Id: rs367743385
• gnomAD v2: 12-58158914-C-T
• gnomAD v3: 12-57765131-C-T
• gnomAD v4: 12-57765131-C-T
• MyVariant Identifiers: chr12:g.58158914C>T (hg19) ; chr12:g.57765131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765131C>T , CM000674.2:g.57765131C>T	GRCh38
NC_000012.11:g.58158914C>T , CM000674.1:g.58158914C>T	GRCh37
NC_000012.10:g.56445181C>T	NCBI36
NG_007076.1:g.7063G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.582G>A
ENST00000713544.1:c.751G>A	ENSP00000518840.1:p.Ala251Thr
ENST00000713545.1:c.728G>A	ENSP00000518841.1:p.Arg243His
ENST00000228606.9:c.670G>A MANE Select	ENSP00000228606.4:p.Ala224Thr
ENST00000228606.8:c.670G>A	ENSP00000228606.4:p.Ala224Thr
ENST00000546567.5:c.-36G>A	ENSP00000449472.1:n.-36G>A
ENST00000546609.1:c.582G>A
ENST00000547344.5:n.809G>A
ENST00000547451.1:n.470G>A
NM_000785.3:c.670G>A	NP_000776.1:p.Ala224Thr
NM_000785.4:c.670G>A MANE Select	NP_000776.1:p.Ala224Thr