Canonical Allele Identifier: CA2038990050
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765686C= , CM000674.2:g.57765686C= GRCh38
NC_000012.11:g.58159469C= , CM000674.1:g.58159469C= GRCh37
NC_000012.10:g.56445736C= NCBI36
NG_007076.1:g.6508G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.299-187G=
ENST00000713544.1:c.387-106G= ENSP00000518840.1:n.387-106G=
ENST00000713545.1:c.387-129G= ENSP00000518841.1:n.387-129G=
ENST00000228606.9:c.387-187G= MANE Select ENSP00000228606.4:n.387-187G=
ENST00000228606.8:c.387-187G= ENSP00000228606.4:n.387-187G=
ENST00000546496.1:n.215-187G=
ENST00000546609.1:c.299-187G=
ENST00000547344.5:n.441-187G=
ENST00000552186.1:n.506-187G=
NM_000785.3:c.387-187G= NP_000776.1:n.387-187G=
NM_000785.4:c.387-187G= MANE Select NP_000776.1:n.387-187G=
Search 100 bp 5'
Search 100 bp 3'