Canonical Allele Identifier: CA480269462

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1462717424
• gnomAD v2: 12-58159855-G-T
• gnomAD v4: 12-57766072-G-T
• MyVariant Identifiers: chr12:g.58159855G>T (hg19) ; chr12:g.57766072G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766072G>T , CM000674.2:g.57766072G>T	GRCh38
NC_000012.11:g.58159855G>T , CM000674.1:g.58159855G>T	GRCh37
NC_000012.10:g.56446122G>T	NCBI36
NG_007076.1:g.6122C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.233C>A
ENST00000713544.1:c.321C>A	ENSP00000518840.1:p.Arg107=
ENST00000713545.1:c.321C>A	ENSP00000518841.1:p.Arg107=
ENST00000228606.9:c.321C>A MANE Select	ENSP00000228606.4:p.Arg107=
ENST00000228606.8:c.321C>A	ENSP00000228606.4:p.Arg107=
ENST00000546496.1:n.149C>A
ENST00000546609.1:c.233C>A
ENST00000547344.5:n.375C>A
ENST00000552186.1:n.440C>A
NM_000785.3:c.321C>A	NP_000776.1:p.Arg107=
NM_000785.4:c.321C>A MANE Select	NP_000776.1:p.Arg107=