Canonical Allele Identifier: CA2038987740
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764572G= , CM000674.2:g.57764572G= GRCh38
NC_000012.11:g.58158355G= , CM000674.1:g.58158355G= GRCh37
NC_000012.10:g.56444622G= NCBI36
NG_007076.1:g.7622C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1045-22C= ENSP00000518840.1:n.1045-22C=
ENST00000713545.1:c.1022-22C= ENSP00000518841.1:n.1022-22C=
ENST00000228606.9:c.964-22C= MANE Select ENSP00000228606.4:n.964-22C=
ENST00000228606.8:c.964-22C= ENSP00000228606.4:n.964-22C=
ENST00000546567.5:c.259-22C= ENSP00000449472.1:n.259-22C=
ENST00000547344.5:n.1103-22C=
ENST00000547451.1:n.945C=
NM_000785.3:c.964-22C= NP_000776.1:n.964-22C=
NM_000785.4:c.964-22C= MANE Select NP_000776.1:n.964-22C=
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