Canonical Allele Identifier: CA2038991011
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766190C= , CM000674.2:g.57766190C= GRCh38
NC_000012.11:g.58159973C= , CM000674.1:g.58159973C= GRCh37
NC_000012.10:g.56446240C= NCBI36
NG_007076.1:g.6004G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.115G=
ENST00000713544.1:c.203G= ENSP00000518840.1:p.Gly68=
ENST00000713545.1:c.203G= ENSP00000518841.1:p.Gly68=
ENST00000228606.9:c.203G= MANE Select ENSP00000228606.4:p.Gly68=
ENST00000228606.8:c.203G= ENSP00000228606.4:p.Gly68=
ENST00000546496.1:n.31G=
ENST00000546609.1:c.115G=
ENST00000547344.5:n.257G=
ENST00000552186.1:n.322G=
NM_000785.3:c.203G= NP_000776.1:p.Gly68=
NM_000785.4:c.203G= MANE Select NP_000776.1:p.Gly68=