Canonical Allele Identifier: CA2038990016
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765653T= , CM000674.2:g.57765653T= GRCh38
NC_000012.11:g.58159436T= , CM000674.1:g.58159436T= GRCh37
NC_000012.10:g.56445703T= NCBI36
NG_007076.1:g.6541A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.299-154A=
ENST00000713544.1:c.387-73A= ENSP00000518840.1:n.387-73A=
ENST00000713545.1:c.387-96A= ENSP00000518841.1:n.387-96A=
ENST00000228606.9:c.387-154A= MANE Select ENSP00000228606.4:n.387-154A=
ENST00000228606.8:c.387-154A= ENSP00000228606.4:n.387-154A=
ENST00000546496.1:n.215-154A=
ENST00000546567.5:c.-473A= ENSP00000449472.1:n.-473A=
ENST00000546609.1:c.299-154A=
ENST00000547344.5:n.441-154A=
ENST00000547451.1:n.33A=
ENST00000552186.1:n.506-154A=
NM_000785.3:c.387-154A= NP_000776.1:n.387-154A=
NM_000785.4:c.387-154A= MANE Select NP_000776.1:n.387-154A=