Canonical Allele Identifier: CA2038990138
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765740A= , CM000674.2:g.57765740A= GRCh38
NC_000012.11:g.58159523A= , CM000674.1:g.58159523A= GRCh37
NC_000012.10:g.56445790A= NCBI36
NG_007076.1:g.6454T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.299-241T=
ENST00000713544.1:c.387-160T= ENSP00000518840.1:n.387-160T=
ENST00000713545.1:c.387-183T= ENSP00000518841.1:n.387-183T=
ENST00000228606.9:c.387-241T= MANE Select ENSP00000228606.4:n.387-241T=
ENST00000228606.8:c.387-241T= ENSP00000228606.4:n.387-241T=
ENST00000546496.1:n.215-241T=
ENST00000546609.1:c.299-241T=
ENST00000547344.5:n.441-241T=
ENST00000552186.1:n.506-241T=
NM_000785.3:c.387-241T= NP_000776.1:n.387-241T=
NM_000785.4:c.387-241T= MANE Select NP_000776.1:n.387-241T=