Canonical Allele Identifier: CA385503789
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158260T>G (hg19) chr12:g.57764477T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764477T>G , CM000674.2:g.57764477T>G GRCh38
NC_000012.11:g.58158260T>G , CM000674.1:g.58158260T>G GRCh37
NC_000012.10:g.56444527T>G NCBI36
NG_007076.1:g.7717A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1118A>C ENSP00000518840.1:p.Glu373Ala
ENST00000713545.1:c.*42A>C ENSP00000518841.1:n.*42A>C
ENST00000228606.9:c.1037A>C MANE Select ENSP00000228606.4:p.Glu346Ala
ENST00000228606.8:c.1037A>C ENSP00000228606.4:p.Glu346Ala
ENST00000546567.5:c.332A>C ENSP00000449472.1:p.Glu111Ala
ENST00000547344.5:n.1176A>C
NM_000785.3:c.1037A>C NP_000776.1:p.Glu346Ala
NM_000785.4:c.1037A>C MANE Select NP_000776.1:p.Glu346Ala
Search 100 bp 5'
Search 100 bp 3'