Canonical Allele Identifier: CA385507735

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1220713472
• gnomAD v2: 12-58159827-G-A
• gnomAD v4: 12-57766044-G-A
• MyVariant Identifiers: chr12:g.58159827G>A (hg19) ; chr12:g.57766044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766044G>A , CM000674.2:g.57766044G>A	GRCh38
NC_000012.11:g.58159827G>A , CM000674.1:g.58159827G>A	GRCh37
NC_000012.10:g.56446094G>A	NCBI36
NG_007076.1:g.6150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.261C>T
ENST00000713544.1:c.349C>T	ENSP00000518840.1:p.Arg117Cys
ENST00000713545.1:c.349C>T	ENSP00000518841.1:p.Arg117Cys
ENST00000228606.9:c.349C>T MANE Select	ENSP00000228606.4:p.Arg117Cys
ENST00000228606.8:c.349C>T	ENSP00000228606.4:p.Arg117Cys
ENST00000546496.1:n.177C>T
ENST00000546609.1:c.261C>T
ENST00000547344.5:n.403C>T
ENST00000552186.1:n.468C>T
NM_000785.3:c.349C>T	NP_000776.1:p.Arg117Cys
NM_000785.4:c.349C>T MANE Select	NP_000776.1:p.Arg117Cys