Canonical Allele Identifier: CA385508248
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1182872192

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766127G>A , CM000674.2:g.57766127G>A GRCh38
NC_000012.11:g.58159910G>A , CM000674.1:g.58159910G>A GRCh37
NC_000012.10:g.56446177G>A NCBI36
NG_007076.1:g.6067C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.178C>T
ENST00000713544.1:c.266C>T ENSP00000518840.1:p.Ala89Val
ENST00000713545.1:c.266C>T ENSP00000518841.1:p.Ala89Val
ENST00000228606.9:c.266C>T MANE Select ENSP00000228606.4:p.Ala89Val
ENST00000228606.8:c.266C>T ENSP00000228606.4:p.Ala89Val
ENST00000546496.1:n.94C>T
ENST00000546609.1:c.178C>T
ENST00000547344.5:n.320C>T
ENST00000552186.1:n.385C>T
NM_000785.3:c.266C>T NP_000776.1:p.Ala89Val
NM_000785.4:c.266C>T MANE Select NP_000776.1:p.Ala89Val