Canonical Allele Identifier: CA6658362

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765144C>G , CM000674.2:g.57765144C>G	GRCh38
NC_000012.11:g.58158927C>G , CM000674.1:g.58158927C>G	GRCh37
NC_000012.10:g.56445194C>G	NCBI36
NG_007076.1:g.7050G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000785.4:c.657G>C MANE Select	NP_000776.1:p.Glu219Asp
ENST00000228606.9:c.657G>C MANE Select	ENSP00000228606.4:p.Glu219Asp
NM_000785.3:c.657G>C	NP_000776.1:p.Glu219Asp
ENST00000228606.8:c.657G>C	ENSP00000228606.4:p.Glu219Asp
ENST00000546567.5:c.-49G>C	ENSP00000449472.1:n.-49G>C
ENST00000546609.1:c.569G>C
ENST00000546609.2:n.569G>C
ENST00000547344.5:n.796G>C
ENST00000547451.1:n.457G>C
ENST00000713544.1:c.738G>C	ENSP00000518840.1:p.Glu246Asp
ENST00000713545.1:c.715G>C	ENSP00000518841.1:p.Asp239His