Canonical Allele Identifier: CA2039015188
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763698T= , CM000674.2:g.57763698T= GRCh38
NC_000012.11:g.58157481T= , CM000674.1:g.58157481T= GRCh37
NC_000012.10:g.56443748T= NCBI36
NG_007076.1:g.8496A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1407A= ENSP00000518840.1:p.Pro469=
ENST00000713545.1:c.*331A= ENSP00000518841.1:n.*331A=
ENST00000228606.9:c.1326A= MANE Select ENSP00000228606.4:p.Pro442=
ENST00000228606.8:c.1326A= ENSP00000228606.4:p.Pro442=
ENST00000547344.5:n.1465A=
NM_000785.3:c.1326A= NP_000776.1:p.Pro442=
NM_000785.4:c.1326A= MANE Select NP_000776.1:p.Pro442=
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