Canonical Allele Identifier: CA2038989963
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765629A= , CM000674.2:g.57765629A= GRCh38
NC_000012.11:g.58159412A= , CM000674.1:g.58159412A= GRCh37
NC_000012.10:g.56445679A= NCBI36
NG_007076.1:g.6565T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.299-130T=
ENST00000713544.1:c.387-49T= ENSP00000518840.1:n.387-49T=
ENST00000713545.1:c.387-72T= ENSP00000518841.1:n.387-72T=
ENST00000228606.9:c.387-130T= MANE Select ENSP00000228606.4:n.387-130T=
ENST00000228606.8:c.387-130T= ENSP00000228606.4:n.387-130T=
ENST00000546496.1:n.215-130T=
ENST00000546567.5:c.-449T= ENSP00000449472.1:n.-449T=
ENST00000546609.1:c.299-130T=
ENST00000547344.5:n.441-130T=
ENST00000547451.1:n.57T=
ENST00000552186.1:n.506-130T=
NM_000785.3:c.387-130T= NP_000776.1:n.387-130T=
NM_000785.4:c.387-130T= MANE Select NP_000776.1:n.387-130T=