Canonical Allele Identifier: CA385504089
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1334151
ClinVar RCV Id: RCV001869609 RCV002266018
dbSNP Id: rs762118198
gnomAD v4: 12-57764540-G-A
MyVariant Identifiers: chr12:g.58158323G>A (hg19) chr12:g.57764540G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764540G>A , CM000674.2:g.57764540G>A GRCh38
NC_000012.11:g.58158323G>A , CM000674.1:g.58158323G>A GRCh37
NC_000012.10:g.56444590G>A NCBI36
NG_007076.1:g.7654C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1055C>T ENSP00000518840.1:p.Thr352Met
ENST00000713545.1:c.1032C>T ENSP00000518841.1:p.His344=
ENST00000228606.9:c.974C>T MANE Select ENSP00000228606.4:p.Thr325Met
ENST00000228606.8:c.974C>T ENSP00000228606.4:p.Thr325Met
ENST00000546567.5:c.269C>T ENSP00000449472.1:p.Thr90Met
ENST00000547344.5:n.1113C>T
NM_000785.3:c.974C>T NP_000776.1:p.Thr325Met
NM_000785.4:c.974C>T MANE Select NP_000776.1:p.Thr325Met
Search 100 bp 5'
Search 100 bp 3'