Canonical Allele Identifier: CA2796149718
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765234A>G , CM000674.2:g.57765234A>G GRCh38
NC_000012.11:g.58159017A>G , CM000674.1:g.58159017A>G GRCh37
NC_000012.10:g.56445284A>G NCBI36
NG_007076.1:g.6960T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.502-23T>C
ENST00000713544.1:c.671-23T>C ENSP00000518840.1:n.671-23T>C
ENST00000713545.1:c.648-23T>C ENSP00000518841.1:n.648-23T>C
ENST00000228606.9:c.590-23T>C MANE Select ENSP00000228606.4:n.590-23T>C
ENST00000228606.8:c.590-23T>C ENSP00000228606.4:n.590-23T>C
ENST00000546567.5:c.-116-23T>C ENSP00000449472.1:n.-116-23T>C
ENST00000546609.1:c.502-23T>C
ENST00000547344.5:n.706T>C
ENST00000547451.1:n.390-23T>C
NM_000785.3:c.590-23T>C NP_000776.1:n.590-23T>C
NM_000785.4:c.590-23T>C MANE Select NP_000776.1:n.590-23T>C
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