Canonical Allele Identifier: CA2039015541
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763790G= , CM000674.2:g.57763790G= GRCh38
NC_000012.11:g.58157573G= , CM000674.1:g.58157573G= GRCh37
NC_000012.10:g.56443840G= NCBI36
NG_007076.1:g.8404C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1315C= ENSP00000518840.1:p.His439=
ENST00000713545.1:c.*239C= ENSP00000518841.1:n.*239C=
ENST00000228606.9:c.1234C= MANE Select ENSP00000228606.4:p.His412=
ENST00000228606.8:c.1234C= ENSP00000228606.4:p.His412=
ENST00000547344.5:n.1373C=
NM_000785.3:c.1234C= NP_000776.1:p.His412=
NM_000785.4:c.1234C= MANE Select NP_000776.1:p.His412=
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