Canonical Allele Identifier: CA480401856
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158316A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764533A>T , CM000674.2:g.57764533A>T GRCh38
NC_000012.11:g.58158316A>T , CM000674.1:g.58158316A>T GRCh37
NC_000012.10:g.56444583A>T NCBI36
NG_007076.1:g.7661T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1062T>A ENSP00000518840.1:p.Ser354=
ENST00000713545.1:c.1039T>A ENSP00000518841.1:p.Leu347Met
ENST00000228606.9:c.981T>A MANE Select ENSP00000228606.4:p.Ser327=
ENST00000228606.8:c.981T>A ENSP00000228606.4:p.Ser327=
ENST00000546567.5:c.276T>A ENSP00000449472.1:p.Ser92=
ENST00000547344.5:n.1120T>A
NM_000785.3:c.981T>A NP_000776.1:p.Ser327=
NM_000785.4:c.981T>A MANE Select NP_000776.1:p.Ser327=