Canonical Allele Identifier: CA2580086693
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2109137
ClinVar RCV Id: RCV003038210
gnomAD v4: 12-57766001-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766001A>G , CM000674.2:g.57766001A>G GRCh38
NC_000012.11:g.58159784A>G , CM000674.1:g.58159784A>G GRCh37
NC_000012.10:g.56446051A>G NCBI36
NG_007076.1:g.6193T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.298+6T>C
ENST00000713544.1:c.386+6T>C ENSP00000518840.1:n.386+6T>C
ENST00000713545.1:c.386+6T>C ENSP00000518841.1:n.386+6T>C
ENST00000228606.9:c.386+6T>C MANE Select ENSP00000228606.4:n.386+6T>C
ENST00000228606.8:c.386+6T>C ENSP00000228606.4:n.386+6T>C
ENST00000546496.1:n.214+6T>C
ENST00000546609.1:c.298+6T>C
ENST00000547344.5:n.440+6T>C
ENST00000552186.1:n.505+6T>C
NM_000785.3:c.386+6T>C NP_000776.1:n.386+6T>C
NM_000785.4:c.386+6T>C MANE Select NP_000776.1:n.386+6T>C
Search 100 bp 5'
Search 100 bp 3'