Canonical Allele Identifier: CA480401822
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2850379
ClinVar RCV Id: RCV003688280
dbSNP Id: rs1955342463
MyVariant Identifiers: chr12:g.58158289G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764506G>A , CM000674.2:g.57764506G>A GRCh38
NC_000012.11:g.58158289G>A , CM000674.1:g.58158289G>A GRCh37
NC_000012.10:g.56444556G>A NCBI36
NG_007076.1:g.7688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1089C>T ENSP00000518840.1:p.His363=
ENST00000713545.1:c.*13C>T ENSP00000518841.1:n.*13C>T
ENST00000228606.9:c.1008C>T MANE Select ENSP00000228606.4:p.His336=
ENST00000228606.8:c.1008C>T ENSP00000228606.4:p.His336=
ENST00000546567.5:c.303C>T ENSP00000449472.1:p.His101=
ENST00000547344.5:n.1147C>T
NM_000785.3:c.1008C>T NP_000776.1:p.His336=
NM_000785.4:c.1008C>T MANE Select NP_000776.1:p.His336=
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