Canonical Allele Identifier: CA2038990982
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766181T= , CM000674.2:g.57766181T= GRCh38
NC_000012.11:g.58159964T= , CM000674.1:g.58159964T= GRCh37
NC_000012.10:g.56446231T= NCBI36
NG_007076.1:g.6013A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.124A=
ENST00000713544.1:c.212A= ENSP00000518840.1:p.His71=
ENST00000713545.1:c.212A= ENSP00000518841.1:p.His71=
ENST00000228606.9:c.212A= MANE Select ENSP00000228606.4:p.His71=
ENST00000228606.8:c.212A= ENSP00000228606.4:p.His71=
ENST00000546496.1:n.40A=
ENST00000546609.1:c.124A=
ENST00000547344.5:n.266A=
ENST00000552186.1:n.331A=
NM_000785.3:c.212A= NP_000776.1:p.His71=
NM_000785.4:c.212A= MANE Select NP_000776.1:p.His71=