Canonical Allele Identifier: CA2038990117
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765727T= , CM000674.2:g.57765727T= GRCh38
NC_000012.11:g.58159510T= , CM000674.1:g.58159510T= GRCh37
NC_000012.10:g.56445777T= NCBI36
NG_007076.1:g.6467A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.299-228A=
ENST00000713544.1:c.387-147A= ENSP00000518840.1:n.387-147A=
ENST00000713545.1:c.387-170A= ENSP00000518841.1:n.387-170A=
ENST00000228606.9:c.387-228A= MANE Select ENSP00000228606.4:n.387-228A=
ENST00000228606.8:c.387-228A= ENSP00000228606.4:n.387-228A=
ENST00000546496.1:n.215-228A=
ENST00000546609.1:c.299-228A=
ENST00000547344.5:n.441-228A=
ENST00000552186.1:n.506-228A=
NM_000785.3:c.387-228A= NP_000776.1:n.387-228A=
NM_000785.4:c.387-228A= MANE Select NP_000776.1:n.387-228A=
Search 100 bp 5'
Search 100 bp 3'