Canonical Allele Identifier: CA237817949

Gene: CYP27B1

Linked Data

• dbSNP Id: rs987105696
• gnomAD v4: 12-57766465-C-T
• MyVariant Identifiers: chr12:g.58160248C>T (hg19) ; chr12:g.57766465C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766465C>T , CM000674.2:g.57766465C>T	GRCh38
NC_000012.11:g.58160248C>T , CM000674.1:g.58160248C>T	GRCh37
NC_000012.10:g.56446515C>T	NCBI36
NG_007076.1:g.5729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-268G>A
ENST00000713544.1:c.196-268G>A	ENSP00000518840.1:n.196-268G>A
ENST00000713545.1:c.196-268G>A	ENSP00000518841.1:n.196-268G>A
ENST00000228606.9:c.196-268G>A MANE Select	ENSP00000228606.4:n.196-268G>A
ENST00000228606.8:c.196-268G>A	ENSP00000228606.4:n.196-268G>A
ENST00000546609.1:c.108-268G>A
ENST00000547344.5:n.250-268G>A
ENST00000552186.1:n.47G>A
NM_000785.3:c.196-268G>A	NP_000776.1:n.196-268G>A
NM_000785.4:c.196-268G>A MANE Select	NP_000776.1:n.196-268G>A