Canonical Allele Identifier: CA2619517032

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765235-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765235G>A , CM000674.2:g.57765235G>A	GRCh38
NC_000012.11:g.58159018G>A , CM000674.1:g.58159018G>A	GRCh37
NC_000012.10:g.56445285G>A	NCBI36
NG_007076.1:g.6959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.502-24C>T
ENST00000713544.1:c.671-24C>T	ENSP00000518840.1:n.671-24C>T
ENST00000713545.1:c.648-24C>T	ENSP00000518841.1:n.648-24C>T
ENST00000228606.9:c.590-24C>T MANE Select	ENSP00000228606.4:n.590-24C>T
ENST00000228606.8:c.590-24C>T	ENSP00000228606.4:n.590-24C>T
ENST00000546567.5:c.-116-24C>T	ENSP00000449472.1:n.-116-24C>T
ENST00000546609.1:c.502-24C>T
ENST00000547344.5:n.705C>T
ENST00000547451.1:n.390-24C>T
NM_000785.3:c.590-24C>T	NP_000776.1:n.590-24C>T
NM_000785.4:c.590-24C>T MANE Select	NP_000776.1:n.590-24C>T