Canonical Allele Identifier: CA2038990875
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766113C= , CM000674.2:g.57766113C= GRCh38
NC_000012.11:g.58159896C= , CM000674.1:g.58159896C= GRCh37
NC_000012.10:g.56446163C= NCBI36
NG_007076.1:g.6081G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.192G=
ENST00000713544.1:c.280G= ENSP00000518840.1:p.Val94=
ENST00000713545.1:c.280G= ENSP00000518841.1:p.Val94=
ENST00000228606.9:c.280G= MANE Select ENSP00000228606.4:p.Val94=
ENST00000228606.8:c.280G= ENSP00000228606.4:p.Val94=
ENST00000546496.1:n.108G=
ENST00000546609.1:c.192G=
ENST00000547344.5:n.334G=
ENST00000552186.1:n.399G=
NM_000785.3:c.280G= NP_000776.1:p.Val94=
NM_000785.4:c.280G= MANE Select NP_000776.1:p.Val94=