Canonical Allele Identifier: CA385505387
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158923A>C (hg19) chr12:g.57765140A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765140A>C , CM000674.2:g.57765140A>C GRCh38
NC_000012.11:g.58158923A>C , CM000674.1:g.58158923A>C GRCh37
NC_000012.10:g.56445190A>C NCBI36
NG_007076.1:g.7054T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.573T>G
ENST00000713544.1:c.742T>G ENSP00000518840.1:p.Phe248Val
ENST00000713545.1:c.719T>G ENSP00000518841.1:p.Leu240Arg
ENST00000228606.9:c.661T>G MANE Select ENSP00000228606.4:p.Phe221Val
ENST00000228606.8:c.661T>G ENSP00000228606.4:p.Phe221Val
ENST00000546567.5:c.-45T>G ENSP00000449472.1:n.-45T>G
ENST00000546609.1:c.573T>G
ENST00000547344.5:n.800T>G
ENST00000547451.1:n.461T>G
NM_000785.3:c.661T>G NP_000776.1:p.Phe221Val
NM_000785.4:c.661T>G MANE Select NP_000776.1:p.Phe221Val
Search 100 bp 5'
Search 100 bp 3'