Canonical Allele Identifier: CA385501045
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58157501C>G (hg19) chr12:g.57763718C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763718C>G , CM000674.2:g.57763718C>G GRCh38
NC_000012.11:g.58157501C>G , CM000674.1:g.58157501C>G GRCh37
NC_000012.10:g.56443768C>G NCBI36
NG_007076.1:g.8476G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1387G>C ENSP00000518840.1:p.Glu463Gln
ENST00000713545.1:c.*311G>C ENSP00000518841.1:n.*311G>C
ENST00000228606.9:c.1306G>C MANE Select ENSP00000228606.4:p.Glu436Gln
ENST00000228606.8:c.1306G>C ENSP00000228606.4:p.Glu436Gln
ENST00000547344.5:n.1445G>C
NM_000785.3:c.1306G>C NP_000776.1:p.Glu436Gln
NM_000785.4:c.1306G>C MANE Select NP_000776.1:p.Glu436Gln
Search 100 bp 5'
Search 100 bp 3'