Canonical Allele Identifier: CA237813633
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2993492
ClinVar RCV Id: RCV003850587
dbSNP Id: rs756054548
gnomAD v3: 12-57763692-T-A
gnomAD v4: 12-57763692-T-A
MyVariant Identifiers: chr12:g.58157475T>A (hg19) chr12:g.57763692T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763692T>A , CM000674.2:g.57763692T>A GRCh38
NC_000012.11:g.58157475T>A , CM000674.1:g.58157475T>A GRCh37
NC_000012.10:g.56443742T>A NCBI36
NG_007076.1:g.8502A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1413A>T ENSP00000518840.1:p.Ala471=
ENST00000713545.1:c.*337A>T ENSP00000518841.1:n.*337A>T
ENST00000228606.9:c.1332A>T MANE Select ENSP00000228606.4:p.Ala444=
ENST00000228606.8:c.1332A>T ENSP00000228606.4:p.Ala444=
ENST00000547344.5:n.1471A>T
NM_000785.3:c.1332A>T NP_000776.1:p.Ala444=
NM_000785.4:c.1332A>T MANE Select NP_000776.1:p.Ala444=
Search 100 bp 5'
Search 100 bp 3'