Canonical Allele Identifier: CA2038988928
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765174G= , CM000674.2:g.57765174G= GRCh38
NC_000012.11:g.58158957G= , CM000674.1:g.58158957G= GRCh37
NC_000012.10:g.56445224G= NCBI36
NG_007076.1:g.7020C=

Transcript Alleles

HGVS Amino-acid change
ENST00000546609.2:n.539C=
ENST00000713544.1:c.708C= ENSP00000518840.1:p.Cys236=
ENST00000713545.1:c.685C= ENSP00000518841.1:p.Pro229=
ENST00000228606.9:c.627C= MANE Select ENSP00000228606.4:p.Cys209=
ENST00000228606.8:c.627C= ENSP00000228606.4:p.Cys209=
ENST00000546567.5:c.-79C= ENSP00000449472.1:n.-79C=
ENST00000546609.1:c.539C=
ENST00000547344.5:n.766C=
ENST00000547451.1:n.427C=
NM_000785.3:c.627C= NP_000776.1:p.Cys209=
NM_000785.4:c.627C= MANE Select NP_000776.1:p.Cys209=