Canonical Allele Identifier: CA2039015575
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763802C= , CM000674.2:g.57763802C= GRCh38
NC_000012.11:g.58157585C= , CM000674.1:g.58157585C= GRCh37
NC_000012.10:g.56443852C= NCBI36
NG_007076.1:g.8392G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1303G= ENSP00000518840.1:p.Val435=
ENST00000713545.1:c.*227G= ENSP00000518841.1:n.*227G=
ENST00000228606.9:c.1222G= MANE Select ENSP00000228606.4:p.Val408=
ENST00000228606.8:c.1222G= ENSP00000228606.4:p.Val408=
ENST00000547344.5:n.1361G=
NM_000785.3:c.1222G= NP_000776.1:p.Val408=
NM_000785.4:c.1222G= MANE Select NP_000776.1:p.Val408=
Search 100 bp 5'
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