Canonical Allele Identifier: CA2619518042

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765677-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765677T>C , CM000674.2:g.57765677T>C	GRCh38
NC_000012.11:g.58159460T>C , CM000674.1:g.58159460T>C	GRCh37
NC_000012.10:g.56445727T>C	NCBI36
NG_007076.1:g.6517A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-178A>G
ENST00000713544.1:c.387-97A>G	ENSP00000518840.1:n.387-97A>G
ENST00000713545.1:c.387-120A>G	ENSP00000518841.1:n.387-120A>G
ENST00000228606.9:c.387-178A>G MANE Select	ENSP00000228606.4:n.387-178A>G
ENST00000228606.8:c.387-178A>G	ENSP00000228606.4:n.387-178A>G
ENST00000546496.1:n.215-178A>G
ENST00000546567.5:c.-497A>G	ENSP00000449472.1:n.-497A>G
ENST00000546609.1:c.299-178A>G
ENST00000547344.5:n.441-178A>G
ENST00000547451.1:n.9A>G
ENST00000552186.1:n.506-178A>G
NM_000785.3:c.387-178A>G	NP_000776.1:n.387-178A>G
NM_000785.4:c.387-178A>G MANE Select	NP_000776.1:n.387-178A>G