Canonical Allele Identifier: CA2619517921

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765642-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765642T>C , CM000674.2:g.57765642T>C	GRCh38
NC_000012.11:g.58159425T>C , CM000674.1:g.58159425T>C	GRCh37
NC_000012.10:g.56445692T>C	NCBI36
NG_007076.1:g.6552A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-143A>G
ENST00000713544.1:c.387-62A>G	ENSP00000518840.1:n.387-62A>G
ENST00000713545.1:c.387-85A>G	ENSP00000518841.1:n.387-85A>G
ENST00000228606.9:c.387-143A>G MANE Select	ENSP00000228606.4:n.387-143A>G
ENST00000228606.8:c.387-143A>G	ENSP00000228606.4:n.387-143A>G
ENST00000546496.1:n.215-143A>G
ENST00000546567.5:c.-462A>G	ENSP00000449472.1:n.-462A>G
ENST00000546609.1:c.299-143A>G
ENST00000547344.5:n.441-143A>G
ENST00000547451.1:n.44A>G
ENST00000552186.1:n.506-143A>G
NM_000785.3:c.387-143A>G	NP_000776.1:n.387-143A>G
NM_000785.4:c.387-143A>G MANE Select	NP_000776.1:n.387-143A>G