Canonical Allele Identifier: CA385503652

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955341862
• gnomAD v3: 12-57764453-C-T
• gnomAD v4: 12-57764453-C-T
• MyVariant Identifiers: chr12:g.58158236C>T (hg19) ; chr12:g.57764453C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764453C>T , CM000674.2:g.57764453C>T	GRCh38
NC_000012.11:g.58158236C>T , CM000674.1:g.58158236C>T	GRCh37
NC_000012.10:g.56444503C>T	NCBI36
NG_007076.1:g.7741G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1142G>A	ENSP00000518840.1:p.Gly381Asp
ENST00000713545.1:c.*66G>A	ENSP00000518841.1:n.*66G>A
ENST00000228606.9:c.1061G>A MANE Select	ENSP00000228606.4:p.Gly354Asp
ENST00000228606.8:c.1061G>A	ENSP00000228606.4:p.Gly354Asp
ENST00000546567.5:c.356G>A	ENSP00000449472.1:p.Gly119Asp
ENST00000547344.5:n.1200G>A
NM_000785.3:c.1061G>A	NP_000776.1:p.Gly354Asp
NM_000785.4:c.1061G>A MANE Select	NP_000776.1:p.Gly354Asp