Canonical Allele Identifier: CA385503532
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764441T>A , CM000674.2:g.57764441T>A GRCh38
NC_000012.11:g.58158224T>A , CM000674.1:g.58158224T>A GRCh37
NC_000012.10:g.56444491T>A NCBI36
NG_007076.1:g.7753A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1154A>T ENSP00000518840.1:p.Tyr385Phe
ENST00000713545.1:c.*78A>T ENSP00000518841.1:n.*78A>T
ENST00000228606.9:c.1073A>T MANE Select ENSP00000228606.4:p.Tyr358Phe
ENST00000228606.8:c.1073A>T ENSP00000228606.4:p.Tyr358Phe
ENST00000546567.5:c.368A>T ENSP00000449472.1:p.Tyr123Phe
ENST00000547344.5:n.1212A>T
NM_000785.3:c.1073A>T NP_000776.1:p.Tyr358Phe
NM_000785.4:c.1073A>T MANE Select NP_000776.1:p.Tyr358Phe