Canonical Allele Identifier: CA385509326
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1465203104

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766137C>T , CM000674.2:g.57766137C>T GRCh38
NC_000012.11:g.58159920C>T , CM000674.1:g.58159920C>T GRCh37
NC_000012.10:g.56446187C>T NCBI36
NG_007076.1:g.6057G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.168G>A
ENST00000713544.1:c.256G>A ENSP00000518840.1:p.Val86Met
ENST00000713545.1:c.256G>A ENSP00000518841.1:p.Val86Met
ENST00000228606.9:c.256G>A MANE Select ENSP00000228606.4:p.Val86Met
ENST00000228606.8:c.256G>A ENSP00000228606.4:p.Val86Met
ENST00000546496.1:n.84G>A
ENST00000546609.1:c.168G>A
ENST00000547344.5:n.310G>A
ENST00000552186.1:n.375G>A
NM_000785.3:c.256G>A NP_000776.1:p.Val86Met
NM_000785.4:c.256G>A MANE Select NP_000776.1:p.Val86Met