Canonical Allele Identifier: CA6658359
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1550732
ClinVar RCV Id: RCV002189849
dbSNP Id: rs765241743
ExAC: 12:58158915 G / T
gnomAD v2: 12-58158915-G-T
gnomAD v4: 12-57765132-G-T
MyVariant Identifiers: chr12:g.58158915G>T (hg19) chr12:g.57765132G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765132G>T , CM000674.2:g.57765132G>T GRCh38
NC_000012.11:g.58158915G>T , CM000674.1:g.58158915G>T GRCh37
NC_000012.10:g.56445182G>T NCBI36
NG_007076.1:g.7062C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.581C>A
ENST00000713544.1:c.750C>A ENSP00000518840.1:p.Arg250=
ENST00000713545.1:c.727C>A ENSP00000518841.1:p.Arg243Ser
ENST00000228606.9:c.669C>A MANE Select ENSP00000228606.4:p.Arg223=
ENST00000228606.8:c.669C>A ENSP00000228606.4:p.Arg223=
ENST00000546567.5:c.-37C>A ENSP00000449472.1:n.-37C>A
ENST00000546609.1:c.581C>A
ENST00000547344.5:n.808C>A
ENST00000547451.1:n.469C>A
NM_000785.3:c.669C>A NP_000776.1:p.Arg223=
NM_000785.4:c.669C>A MANE Select NP_000776.1:p.Arg223=
Search 100 bp 5'
Search 100 bp 3'