Canonical Allele Identifier: CA115136

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765320T>C , CM000674.2:g.57765320T>C	GRCh38
NC_000012.11:g.58159103T>C , CM000674.1:g.58159103T>C	GRCh37
NC_000012.10:g.56445370T>C	NCBI36
NG_007076.1:g.6874A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000785.4:c.566A>G MANE Select	NP_000776.1:p.Glu189Gly
ENST00000228606.9:c.566A>G MANE Select	ENSP00000228606.4:p.Glu189Gly
NM_000785.3:c.566A>G	NP_000776.1:p.Glu189Gly
ENST00000228606.8:c.566A>G	ENSP00000228606.4:p.Glu189Gly
ENST00000546567.5:c.-140A>G	ENSP00000449472.1:n.-140A>G
ENST00000546609.1:c.478A>G
ENST00000546609.2:n.478A>G
ENST00000547344.5:n.620A>G
ENST00000547451.1:n.366A>G
ENST00000713544.1:c.647A>G	ENSP00000518840.1:p.Glu216Gly
ENST00000713545.1:c.624A>G	ENSP00000518841.1:p.Gly208=