Canonical Allele Identifier: CA2619519772

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57766119-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766120dup , CM000674.2:g.57766120dup	GRCh38
NC_000012.11:g.58159903dup , CM000674.1:g.58159903dup	GRCh37
NC_000012.10:g.56446170dup	NCBI36
NG_007076.1:g.6074dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.185dup
ENST00000713544.1:c.273dup	ENSP00000518840.1:p.Ala92CysfsTer?
ENST00000713545.1:c.273dup	ENSP00000518841.1:p.Ala92CysfsTer?
ENST00000228606.9:c.273dup MANE Select	ENSP00000228606.4:p.Ala92CysfsTer?
ENST00000228606.8:c.273dup	ENSP00000228606.4:p.Ala92CysfsTer?
ENST00000546496.1:n.101dup
ENST00000546609.1:c.185dup
ENST00000547344.5:n.327dup
ENST00000552186.1:n.392dup
NM_000785.3:c.273dup	NP_000776.1:p.Ala92CysfsTer?
NM_000785.4:c.273dup MANE Select	NP_000776.1:p.Ala92CysfsTer?