Canonical Allele Identifier: CA480401619
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58157881A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764098A>G , CM000674.2:g.57764098A>G GRCh38
NC_000012.11:g.58157881A>G , CM000674.1:g.58157881A>G GRCh37
NC_000012.10:g.56444148A>G NCBI36
NG_007076.1:g.8096T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1296T>C ENSP00000518840.1:p.Asn432=
ENST00000713545.1:c.*220T>C ENSP00000518841.1:n.*220T>C
ENST00000228606.9:c.1215T>C MANE Select ENSP00000228606.4:p.Asn405=
ENST00000228606.8:c.1215T>C ENSP00000228606.4:p.Asn405=
ENST00000547344.5:n.1354T>C
NM_000785.3:c.1215T>C NP_000776.1:p.Asn405=
NM_000785.4:c.1215T>C MANE Select NP_000776.1:p.Asn405=