Canonical Allele Identifier: CA385503116
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764384A>T , CM000674.2:g.57764384A>T GRCh38
NC_000012.11:g.58158167A>T , CM000674.1:g.58158167A>T GRCh37
NC_000012.10:g.56444434A>T NCBI36
NG_007076.1:g.7810T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1211T>A ENSP00000518840.1:p.Val404Glu
ENST00000713545.1:c.*135T>A ENSP00000518841.1:n.*135T>A
ENST00000228606.9:c.1130T>A MANE Select ENSP00000228606.4:p.Val377Glu
ENST00000228606.8:c.1130T>A ENSP00000228606.4:p.Val377Glu
ENST00000546567.5:c.425T>A ENSP00000449472.1:p.Val142Glu
ENST00000547344.5:n.1269T>A
NM_000785.3:c.1130T>A NP_000776.1:p.Val377Glu
NM_000785.4:c.1130T>A MANE Select NP_000776.1:p.Val377Glu