Canonical Allele Identifier: CA6658357
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2896725
ClinVar RCV Id: RCV003733063
dbSNP Id: rs753733417
ExAC: 12:58158906 G / A
gnomAD v2: 12-58158906-G-A
gnomAD v3: 12-57765123-G-A
gnomAD v4: 12-57765123-G-A
MyVariant Identifiers: chr12:g.58158906G>A (hg19) chr12:g.57765123G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765123G>A , CM000674.2:g.57765123G>A GRCh38
NC_000012.11:g.58158906G>A , CM000674.1:g.58158906G>A GRCh37
NC_000012.10:g.56445173G>A NCBI36
NG_007076.1:g.7071C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000546609.2:n.590C>T
ENST00000713544.1:c.759C>T ENSP00000518840.1:p.Gly253=
ENST00000713545.1:c.736C>T ENSP00000518841.1:p.Leu246Phe
ENST00000228606.9:c.678C>T MANE Select ENSP00000228606.4:p.Gly226=
ENST00000228606.8:c.678C>T ENSP00000228606.4:p.Gly226=
ENST00000546567.5:c.-28C>T ENSP00000449472.1:n.-28C>T
ENST00000546609.1:c.590C>T
ENST00000547344.5:n.817C>T
ENST00000547451.1:n.478C>T
NM_000785.3:c.678C>T NP_000776.1:p.Gly226=
NM_000785.4:c.678C>T MANE Select NP_000776.1:p.Gly226=
Search 100 bp 5'
Search 100 bp 3'