Canonical Allele Identifier: CA115125
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1659
ClinVar RCV Id: RCV000001726
dbSNP Id: rs28934605
gnomAD v4: 12-57766019-C-T
MyVariant Identifiers: chr12:g.58159802C>T (hg19) chr12:g.57766019C>T (hg38)
PubMed: PMID:9486994
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766019C>T , CM000674.2:g.57766019C>T GRCh38
NC_000012.11:g.58159802C>T , CM000674.1:g.58159802C>T GRCh37
NC_000012.10:g.56446069C>T NCBI36
NG_007076.1:g.6175G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000546609.2:n.286G>A
ENST00000713544.1:c.374G>A ENSP00000518840.1:p.Gly125Glu
ENST00000713545.1:c.374G>A ENSP00000518841.1:p.Gly125Glu
ENST00000228606.9:c.374G>A MANE Select ENSP00000228606.4:p.Gly125Glu
ENST00000228606.8:c.374G>A ENSP00000228606.4:p.Gly125Glu
ENST00000546496.1:n.202G>A
ENST00000546609.1:c.286G>A
ENST00000547344.5:n.428G>A
ENST00000552186.1:n.493G>A
NM_000785.3:c.374G>A NP_000776.1:p.Gly125Glu
NM_000785.4:c.374G>A MANE Select NP_000776.1:p.Gly125Glu
Search 100 bp 5'
Search 100 bp 3'