Canonical Allele Identifier: CA2039016162

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764115A= , CM000674.2:g.57764115A=	GRCh38
NC_000012.11:g.58157898A= , CM000674.1:g.58157898A=	GRCh37
NC_000012.10:g.56444165A=	NCBI36
NG_007076.1:g.8079T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1279T=	ENSP00000518840.1:p.Tyr427=
ENST00000713545.1:c.*203T=	ENSP00000518841.1:n.*203T=
ENST00000228606.9:c.1198T= MANE Select	ENSP00000228606.4:p.Tyr400=
ENST00000228606.8:c.1198T=	ENSP00000228606.4:p.Tyr400=
ENST00000547344.5:n.1337T=
NM_000785.3:c.1198T=	NP_000776.1:p.Tyr400=
NM_000785.4:c.1198T= MANE Select	NP_000776.1:p.Tyr400=