Canonical Allele Identifier: CA385501112
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763741A>C , CM000674.2:g.57763741A>C GRCh38
NC_000012.11:g.58157524A>C , CM000674.1:g.58157524A>C GRCh37
NC_000012.10:g.56443791A>C NCBI36
NG_007076.1:g.8453T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1364T>G ENSP00000518840.1:p.Phe455Cys
ENST00000713545.1:c.*288T>G ENSP00000518841.1:n.*288T>G
ENST00000228606.9:c.1283T>G MANE Select ENSP00000228606.4:p.Phe428Cys
ENST00000228606.8:c.1283T>G ENSP00000228606.4:p.Phe428Cys
ENST00000547344.5:n.1422T>G
NM_000785.3:c.1283T>G NP_000776.1:p.Phe428Cys
NM_000785.4:c.1283T>G MANE Select NP_000776.1:p.Phe428Cys