Canonical Allele Identifier: CA2619518053

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765681-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765681C>A , CM000674.2:g.57765681C>A	GRCh38
NC_000012.11:g.58159464C>A , CM000674.1:g.58159464C>A	GRCh37
NC_000012.10:g.56445731C>A	NCBI36
NG_007076.1:g.6513G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-182G>T
ENST00000713544.1:c.387-101G>T	ENSP00000518840.1:n.387-101G>T
ENST00000713545.1:c.387-124G>T	ENSP00000518841.1:n.387-124G>T
ENST00000228606.9:c.387-182G>T MANE Select	ENSP00000228606.4:n.387-182G>T
ENST00000228606.8:c.387-182G>T	ENSP00000228606.4:n.387-182G>T
ENST00000546496.1:n.215-182G>T
ENST00000546567.5:c.-501G>T	ENSP00000449472.1:n.-501G>T
ENST00000546609.1:c.299-182G>T
ENST00000547344.5:n.441-182G>T
ENST00000547451.1:n.5G>T
ENST00000552186.1:n.506-182G>T
NM_000785.3:c.387-182G>T	NP_000776.1:n.387-182G>T
NM_000785.4:c.387-182G>T MANE Select	NP_000776.1:n.387-182G>T