Canonical Allele Identifier: CA480401853
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158310A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764527A>T , CM000674.2:g.57764527A>T GRCh38
NC_000012.11:g.58158310A>T , CM000674.1:g.58158310A>T GRCh37
NC_000012.10:g.56444577A>T NCBI36
NG_007076.1:g.7667T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1068T>A ENSP00000518840.1:p.Ala356=
ENST00000713545.1:c.1045T>A ENSP00000518841.1:p.Ser349Thr
ENST00000228606.9:c.987T>A MANE Select ENSP00000228606.4:p.Ala329=
ENST00000228606.8:c.987T>A ENSP00000228606.4:p.Ala329=
ENST00000546567.5:c.282T>A ENSP00000449472.1:p.Ala94=
ENST00000547344.5:n.1126T>A
NM_000785.3:c.987T>A NP_000776.1:p.Ala329=
NM_000785.4:c.987T>A MANE Select NP_000776.1:p.Ala329=