Canonical Allele Identifier: CA2575206555

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764261T>C , CM000674.2:g.57764261T>C	GRCh38
NC_000012.11:g.58158044T>C , CM000674.1:g.58158044T>C	GRCh37
NC_000012.10:g.56444311T>C	NCBI36
NG_007076.1:g.7933A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1218-85A>G	ENSP00000518840.1:n.1218-85A>G
ENST00000713545.1:c.*142-85A>G	ENSP00000518841.1:n.*142-85A>G
ENST00000228606.9:c.1137-85A>G MANE Select	ENSP00000228606.4:n.1137-85A>G
ENST00000228606.8:c.1137-85A>G	ENSP00000228606.4:n.1137-85A>G
ENST00000546567.5:c.432-85A>G	ENSP00000449472.1:n.432-85A>G
ENST00000547344.5:n.1276-85A>G
NM_000785.3:c.1137-85A>G	NP_000776.1:n.1137-85A>G
NM_000785.4:c.1137-85A>G MANE Select	NP_000776.1:n.1137-85A>G