Canonical Allele Identifier: CA2039015252
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763708G= , CM000674.2:g.57763708G= GRCh38
NC_000012.11:g.58157491G= , CM000674.1:g.58157491G= GRCh37
NC_000012.10:g.56443758G= NCBI36
NG_007076.1:g.8486C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1397C= ENSP00000518840.1:p.Thr466=
ENST00000713545.1:c.*321C= ENSP00000518841.1:n.*321C=
ENST00000228606.9:c.1316C= MANE Select ENSP00000228606.4:p.Thr439=
ENST00000228606.8:c.1316C= ENSP00000228606.4:p.Thr439=
ENST00000547344.5:n.1455C=
NM_000785.3:c.1316C= NP_000776.1:p.Thr439=
NM_000785.4:c.1316C= MANE Select NP_000776.1:p.Thr439=
Search 100 bp 5'
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