Canonical Allele Identifier: CA6658387
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2981883
ClinVar RCV Id: RCV003840465
dbSNP Id: rs755402663
ExAC: 12:58159013 C / T
gnomAD v2: 12-58159013-C-T
gnomAD v4: 12-57765230-C-T
MyVariant Identifiers: chr12:g.58159013C>T (hg19) chr12:g.57765230C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765230C>T , CM000674.2:g.57765230C>T GRCh38
NC_000012.11:g.58159013C>T , CM000674.1:g.58159013C>T GRCh37
NC_000012.10:g.56445280C>T NCBI36
NG_007076.1:g.6964G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000546609.2:n.502-19G>A
ENST00000713544.1:c.671-19G>A ENSP00000518840.1:n.671-19G>A
ENST00000713545.1:c.648-19G>A ENSP00000518841.1:n.648-19G>A
ENST00000228606.9:c.590-19G>A MANE Select ENSP00000228606.4:n.590-19G>A
ENST00000228606.8:c.590-19G>A ENSP00000228606.4:n.590-19G>A
ENST00000546567.5:c.-116-19G>A ENSP00000449472.1:n.-116-19G>A
ENST00000546609.1:c.502-19G>A
ENST00000547344.5:n.710G>A
ENST00000547451.1:n.390-19G>A
NM_000785.3:c.590-19G>A NP_000776.1:n.590-19G>A
NM_000785.4:c.590-19G>A MANE Select NP_000776.1:n.590-19G>A
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