Canonical Allele Identifier: CA2039015479
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763768G= , CM000674.2:g.57763768G= GRCh38
NC_000012.11:g.58157551G= , CM000674.1:g.58157551G= GRCh37
NC_000012.10:g.56443818G= NCBI36
NG_007076.1:g.8426C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1337C= ENSP00000518840.1:p.Pro446=
ENST00000713545.1:c.*261C= ENSP00000518841.1:n.*261C=
ENST00000228606.9:c.1256C= MANE Select ENSP00000228606.4:p.Pro419=
ENST00000228606.8:c.1256C= ENSP00000228606.4:p.Pro419=
ENST00000547344.5:n.1395C=
NM_000785.3:c.1256C= NP_000776.1:p.Pro419=
NM_000785.4:c.1256C= MANE Select NP_000776.1:p.Pro419=
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