Canonical Allele Identifier: CA480269469
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 882531
ClinVar RCV Id: RCV001112265 RCV003727862
dbSNP Id: rs1300048405
gnomAD v2: 12-58159858-C-T
gnomAD v3: 12-57766075-C-T
gnomAD v4: 12-57766075-C-T
MyVariant Identifiers: chr12:g.58159858C>T (hg19) chr12:g.57766075C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766075C>T , CM000674.2:g.57766075C>T GRCh38
NC_000012.11:g.58159858C>T , CM000674.1:g.58159858C>T GRCh37
NC_000012.10:g.56446125C>T NCBI36
NG_007076.1:g.6119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.230G>A
ENST00000713544.1:c.318G>A ENSP00000518840.1:p.Glu106=
ENST00000713545.1:c.318G>A ENSP00000518841.1:p.Glu106=
ENST00000228606.9:c.318G>A MANE Select ENSP00000228606.4:p.Glu106=
ENST00000228606.8:c.318G>A ENSP00000228606.4:p.Glu106=
ENST00000546496.1:n.146G>A
ENST00000546609.1:c.230G>A
ENST00000547344.5:n.372G>A
ENST00000552186.1:n.437G>A
NM_000785.3:c.318G>A NP_000776.1:p.Glu106=
NM_000785.4:c.318G>A MANE Select NP_000776.1:p.Glu106=
Search 100 bp 5'
Search 100 bp 3'