Canonical Allele Identifier: CA480269232
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58157463A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763680A>G , CM000674.2:g.57763680A>G GRCh38
NC_000012.11:g.58157463A>G , CM000674.1:g.58157463A>G GRCh37
NC_000012.10:g.56443730A>G NCBI36
NG_007076.1:g.8514T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1425T>C ENSP00000518840.1:p.Phe475=
ENST00000713545.1:c.*349T>C ENSP00000518841.1:n.*349T>C
ENST00000228606.9:c.1344T>C MANE Select ENSP00000228606.4:p.Phe448=
ENST00000228606.8:c.1344T>C ENSP00000228606.4:p.Phe448=
ENST00000547344.5:n.1483T>C
NM_000785.3:c.1344T>C NP_000776.1:p.Phe448=
NM_000785.4:c.1344T>C MANE Select NP_000776.1:p.Phe448=
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