Canonical Allele Identifier: CA2619515648

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57764314-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764315dup , CM000674.2:g.57764315dup	GRCh38
NC_000012.11:g.58158098dup , CM000674.1:g.58158098dup	GRCh37
NC_000012.10:g.56444365dup	NCBI36
NG_007076.1:g.7879dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1217+63dup	ENSP00000518840.1:n.1217+63dup
ENST00000713545.1:c.*141+63dup	ENSP00000518841.1:n.*141+63dup
ENST00000228606.9:c.1136+63dup MANE Select	ENSP00000228606.4:n.1136+63dup
ENST00000228606.8:c.1136+63dup	ENSP00000228606.4:n.1136+63dup
ENST00000546567.5:c.431+63dup	ENSP00000449472.1:n.431+63dup
ENST00000547344.5:n.1275+63dup
NM_000785.3:c.1136+63dup	NP_000776.1:n.1136+63dup
NM_000785.4:c.1136+63dup MANE Select	NP_000776.1:n.1136+63dup