Canonical Allele Identifier: CA385509600

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1347138487
• gnomAD v4: 12-57766191-C-A
• MyVariant Identifiers: chr12:g.58159974C>A (hg19) ; chr12:g.57766191C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766191C>A , CM000674.2:g.57766191C>A	GRCh38
NC_000012.11:g.58159974C>A , CM000674.1:g.58159974C>A	GRCh37
NC_000012.10:g.56446241C>A	NCBI36
NG_007076.1:g.6003G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.114G>T
ENST00000713544.1:c.202G>T	ENSP00000518840.1:p.Gly68Cys
ENST00000713545.1:c.202G>T	ENSP00000518841.1:p.Gly68Cys
ENST00000228606.9:c.202G>T MANE Select	ENSP00000228606.4:p.Gly68Cys
ENST00000228606.8:c.202G>T	ENSP00000228606.4:p.Gly68Cys
ENST00000546496.1:n.30G>T
ENST00000546609.1:c.114G>T
ENST00000547344.5:n.256G>T
ENST00000552186.1:n.321G>T
NM_000785.3:c.202G>T	NP_000776.1:p.Gly68Cys
NM_000785.4:c.202G>T MANE Select	NP_000776.1:p.Gly68Cys