Canonical Allele Identifier: CA480401706
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2869620
ClinVar RCV Id: RCV003700730
dbSNP Id: rs1377455824
gnomAD v2: 12-58158241-G-A
gnomAD v4: 12-57764458-G-A
MyVariant Identifiers: chr12:g.58158241G>A (hg19) chr12:g.57764458G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764458G>A , CM000674.2:g.57764458G>A GRCh38
NC_000012.11:g.58158241G>A , CM000674.1:g.58158241G>A GRCh37
NC_000012.10:g.56444508G>A NCBI36
NG_007076.1:g.7736C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1137C>T ENSP00000518840.1:p.Ser379=
ENST00000713545.1:c.*61C>T ENSP00000518841.1:n.*61C>T
ENST00000228606.9:c.1056C>T MANE Select ENSP00000228606.4:p.Ser352=
ENST00000228606.8:c.1056C>T ENSP00000228606.4:p.Ser352=
ENST00000546567.5:c.351C>T ENSP00000449472.1:p.Ser117=
ENST00000547344.5:n.1195C>T
NM_000785.3:c.1056C>T NP_000776.1:p.Ser352=
NM_000785.4:c.1056C>T MANE Select NP_000776.1:p.Ser352=
Search 100 bp 5'
Search 100 bp 3'