Canonical Allele Identifier: CA480403090

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1733634847
• gnomAD v4: 12-57765138-G-A
• MyVariant Identifiers: chr12:g.58158921G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765138G>A , CM000674.2:g.57765138G>A	GRCh38
NC_000012.11:g.58158921G>A , CM000674.1:g.58158921G>A	GRCh37
NC_000012.10:g.56445188G>A	NCBI36
NG_007076.1:g.7056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.575C>T
ENST00000713544.1:c.744C>T	ENSP00000518840.1:p.Phe248=
ENST00000713545.1:c.721C>T	ENSP00000518841.1:p.His241Tyr
ENST00000228606.9:c.663C>T MANE Select	ENSP00000228606.4:p.Phe221=
ENST00000228606.8:c.663C>T	ENSP00000228606.4:p.Phe221=
ENST00000546567.5:c.-43C>T	ENSP00000449472.1:n.-43C>T
ENST00000546609.1:c.575C>T
ENST00000547344.5:n.802C>T
ENST00000547451.1:n.463C>T
NM_000785.3:c.663C>T	NP_000776.1:p.Phe221=
NM_000785.4:c.663C>T MANE Select	NP_000776.1:p.Phe221=