Canonical Allele Identifier: CA2039015114
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763667G= , CM000674.2:g.57763667G= GRCh38
NC_000012.11:g.58157450G= , CM000674.1:g.58157450G= GRCh37
NC_000012.10:g.56443717G= NCBI36
NG_007076.1:g.8527C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1438C= ENSP00000518840.1:p.Arg480=
ENST00000713545.1:c.*362C= ENSP00000518841.1:n.*362C=
ENST00000228606.9:c.1357C= MANE Select ENSP00000228606.4:p.Arg453=
ENST00000228606.8:c.1357C= ENSP00000228606.4:p.Arg453=
ENST00000547344.5:n.1496C=
NM_000785.3:c.1357C= NP_000776.1:p.Arg453=
NM_000785.4:c.1357C= MANE Select NP_000776.1:p.Arg453=
Search 100 bp 5'
Search 100 bp 3'