Canonical Allele Identifier: CA6658472

Gene: CYP27B1

Linked Data

• dbSNP Id: rs575378164
• ExAC: 12:58159455 A / G
• gnomAD v2: 12-58159455-A-G
• gnomAD v3: 12-57765672-A-G
• gnomAD v4: 12-57765672-A-G
• MyVariant Identifiers: chr12:g.58159455A>G (hg19) ; chr12:g.57765672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765672A>G , CM000674.2:g.57765672A>G	GRCh38
NC_000012.11:g.58159455A>G , CM000674.1:g.58159455A>G	GRCh37
NC_000012.10:g.56445722A>G	NCBI36
NG_007076.1:g.6522T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-173T>C
ENST00000713544.1:c.387-92T>C	ENSP00000518840.1:n.387-92T>C
ENST00000713545.1:c.387-115T>C	ENSP00000518841.1:n.387-115T>C
ENST00000228606.9:c.387-173T>C MANE Select	ENSP00000228606.4:n.387-173T>C
ENST00000228606.8:c.387-173T>C	ENSP00000228606.4:n.387-173T>C
ENST00000546496.1:n.215-173T>C
ENST00000546567.5:c.-492T>C	ENSP00000449472.1:n.-492T>C
ENST00000546609.1:c.299-173T>C
ENST00000547344.5:n.441-173T>C
ENST00000547451.1:n.14T>C
ENST00000552186.1:n.506-173T>C
NM_000785.3:c.387-173T>C	NP_000776.1:n.387-173T>C
NM_000785.4:c.387-173T>C MANE Select	NP_000776.1:n.387-173T>C