Canonical Allele Identifier: CA385503795
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57764478-C-G
MyVariant Identifiers: chr12:g.58158261C>G (hg19) chr12:g.57764478C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764478C>G , CM000674.2:g.57764478C>G GRCh38
NC_000012.11:g.58158261C>G , CM000674.1:g.58158261C>G GRCh37
NC_000012.10:g.56444528C>G NCBI36
NG_007076.1:g.7716G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1117G>C ENSP00000518840.1:p.Glu373Gln
ENST00000713545.1:c.*41G>C ENSP00000518841.1:n.*41G>C
ENST00000228606.9:c.1036G>C MANE Select ENSP00000228606.4:p.Glu346Gln
ENST00000228606.8:c.1036G>C ENSP00000228606.4:p.Glu346Gln
ENST00000546567.5:c.331G>C ENSP00000449472.1:p.Glu111Gln
ENST00000547344.5:n.1175G>C
NM_000785.3:c.1036G>C NP_000776.1:p.Glu346Gln
NM_000785.4:c.1036G>C MANE Select NP_000776.1:p.Glu346Gln
Search 100 bp 5'
Search 100 bp 3'