Canonical Allele Identifier: CA385507606
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432037
ClinVar RCV Id: RCV000498710
dbSNP Id: rs1555202494
gnomAD v3: 12-57766020-C-T
gnomAD v4: 12-57766020-C-T
MyVariant Identifiers: chr12:g.58159803C>T (hg19) chr12:g.57766020C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766020C>T , CM000674.2:g.57766020C>T GRCh38
NC_000012.11:g.58159803C>T , CM000674.1:g.58159803C>T GRCh37
NC_000012.10:g.56446070C>T NCBI36
NG_007076.1:g.6174G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.285G>A
ENST00000713544.1:c.373G>A ENSP00000518840.1:p.Gly125Arg
ENST00000713545.1:c.373G>A ENSP00000518841.1:p.Gly125Arg
ENST00000228606.9:c.373G>A MANE Select ENSP00000228606.4:p.Gly125Arg
ENST00000228606.8:c.373G>A ENSP00000228606.4:p.Gly125Arg
ENST00000546496.1:n.201G>A
ENST00000546609.1:c.285G>A
ENST00000547344.5:n.427G>A
ENST00000552186.1:n.492G>A
NM_000785.3:c.373G>A NP_000776.1:p.Gly125Arg
NM_000785.4:c.373G>A MANE Select NP_000776.1:p.Gly125Arg
Search 100 bp 5'
Search 100 bp 3'