Canonical Allele Identifier: CA2039014962

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763612T= , CM000674.2:g.57763612T=	GRCh38
NC_000012.11:g.58157395T= , CM000674.1:g.58157395T=	GRCh37
NC_000012.10:g.56443662T=	NCBI36
NG_007076.1:g.8582A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1493A=	ENSP00000518840.1:p.Gln498=
ENST00000713545.1:c.*417A=	ENSP00000518841.1:n.*417A=
ENST00000228606.9:c.1412A= MANE Select	ENSP00000228606.4:p.Gln471=
ENST00000228606.8:c.1412A=	ENSP00000228606.4:p.Gln471=
ENST00000547344.5:n.1551A=
NM_000785.3:c.1412A=	NP_000776.1:p.Gln471=
NM_000785.4:c.1412A= MANE Select	NP_000776.1:p.Gln471=