Canonical Allele Identifier: CA2039015415
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763756G= , CM000674.2:g.57763756G= GRCh38
NC_000012.11:g.58157539G= , CM000674.1:g.58157539G= GRCh37
NC_000012.10:g.56443806G= NCBI36
NG_007076.1:g.8438C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1349C= ENSP00000518840.1:p.Pro450=
ENST00000713545.1:c.*273C= ENSP00000518841.1:n.*273C=
ENST00000228606.9:c.1268C= MANE Select ENSP00000228606.4:p.Pro423=
ENST00000228606.8:c.1268C= ENSP00000228606.4:p.Pro423=
ENST00000547344.5:n.1407C=
NM_000785.3:c.1268C= NP_000776.1:p.Pro423=
NM_000785.4:c.1268C= MANE Select NP_000776.1:p.Pro423=
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