Canonical Allele Identifier: CA237817792
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs530008944
gnomAD v2: 12-58159969-G-A
gnomAD v3: 12-57766186-G-A
gnomAD v4: 12-57766186-G-A
MyVariant Identifiers: chr12:g.58159969G>A (hg19) chr12:g.57766186G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766186G>A , CM000674.2:g.57766186G>A GRCh38
NC_000012.11:g.58159969G>A , CM000674.1:g.58159969G>A GRCh37
NC_000012.10:g.56446236G>A NCBI36
NG_007076.1:g.6008C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.119C>T
ENST00000713544.1:c.207C>T ENSP00000518840.1:p.Ala69=
ENST00000713545.1:c.207C>T ENSP00000518841.1:p.Ala69=
ENST00000228606.9:c.207C>T MANE Select ENSP00000228606.4:p.Ala69=
ENST00000228606.8:c.207C>T ENSP00000228606.4:p.Ala69=
ENST00000546496.1:n.35C>T
ENST00000546609.1:c.119C>T
ENST00000547344.5:n.261C>T
ENST00000552186.1:n.326C>T
NM_000785.3:c.207C>T NP_000776.1:p.Ala69=
NM_000785.4:c.207C>T MANE Select NP_000776.1:p.Ala69=
Search 100 bp 5'
Search 100 bp 3'