Canonical Allele Identifier: CA385500806
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58157444A>G (hg19) chr12:g.57763661A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763661A>G , CM000674.2:g.57763661A>G GRCh38
NC_000012.11:g.58157444A>G , CM000674.1:g.58157444A>G GRCh37
NC_000012.10:g.56443711A>G NCBI36
NG_007076.1:g.8533T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1444T>C ENSP00000518840.1:p.Cys482Arg
ENST00000713545.1:c.*368T>C ENSP00000518841.1:n.*368T>C
ENST00000228606.9:c.1363T>C MANE Select ENSP00000228606.4:p.Cys455Arg
ENST00000228606.8:c.1363T>C ENSP00000228606.4:p.Cys455Arg
ENST00000547344.5:n.1502T>C
NM_000785.3:c.1363T>C NP_000776.1:p.Cys455Arg
NM_000785.4:c.1363T>C MANE Select NP_000776.1:p.Cys455Arg
Search 100 bp 5'
Search 100 bp 3'