Canonical Allele Identifier: CA605325284

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1406353247
• gnomAD v2: 12-58159426-G-A
• gnomAD v4: 12-57765643-G-A
• MyVariant Identifiers: chr12:g.58159426G>A (hg19) ; chr12:g.57765643G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765643G>A , CM000674.2:g.57765643G>A	GRCh38
NC_000012.11:g.58159426G>A , CM000674.1:g.58159426G>A	GRCh37
NC_000012.10:g.56445693G>A	NCBI36
NG_007076.1:g.6551C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-144C>T
ENST00000713544.1:c.387-63C>T	ENSP00000518840.1:n.387-63C>T
ENST00000713545.1:c.387-86C>T	ENSP00000518841.1:n.387-86C>T
ENST00000228606.9:c.387-144C>T MANE Select	ENSP00000228606.4:n.387-144C>T
ENST00000228606.8:c.387-144C>T	ENSP00000228606.4:n.387-144C>T
ENST00000546496.1:n.215-144C>T
ENST00000546567.5:c.-463C>T	ENSP00000449472.1:n.-463C>T
ENST00000546609.1:c.299-144C>T
ENST00000547344.5:n.441-144C>T
ENST00000547451.1:n.43C>T
ENST00000552186.1:n.506-144C>T
NM_000785.3:c.387-144C>T	NP_000776.1:n.387-144C>T
NM_000785.4:c.387-144C>T MANE Select	NP_000776.1:n.387-144C>T