Canonical Allele Identifier: CA2038990149
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765760G= , CM000674.2:g.57765760G= GRCh38
NC_000012.11:g.58159543G= , CM000674.1:g.58159543G= GRCh37
NC_000012.10:g.56445810G= NCBI36
NG_007076.1:g.6434C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.298+247C=
ENST00000713544.1:c.387-180C= ENSP00000518840.1:n.387-180C=
ENST00000713545.1:c.387-203C= ENSP00000518841.1:n.387-203C=
ENST00000228606.9:c.386+247C= MANE Select ENSP00000228606.4:n.386+247C=
ENST00000228606.8:c.386+247C= ENSP00000228606.4:n.386+247C=
ENST00000546496.1:n.214+247C=
ENST00000546609.1:c.298+247C=
ENST00000547344.5:n.440+247C=
ENST00000552186.1:n.505+247C=
NM_000785.3:c.386+247C= NP_000776.1:n.386+247C=
NM_000785.4:c.386+247C= MANE Select NP_000776.1:n.386+247C=
Search 100 bp 5'
Search 100 bp 3'