Canonical Allele Identifier: CA385502346
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764108A>T , CM000674.2:g.57764108A>T GRCh38
NC_000012.11:g.58157891A>T , CM000674.1:g.58157891A>T GRCh37
NC_000012.10:g.56444158A>T NCBI36
NG_007076.1:g.8086T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1286T>A ENSP00000518840.1:p.Ile429Asn
ENST00000713545.1:c.*210T>A ENSP00000518841.1:n.*210T>A
ENST00000228606.9:c.1205T>A MANE Select ENSP00000228606.4:p.Ile402Asn
ENST00000228606.8:c.1205T>A ENSP00000228606.4:p.Ile402Asn
ENST00000547344.5:n.1344T>A
NM_000785.3:c.1205T>A NP_000776.1:p.Ile402Asn
NM_000785.4:c.1205T>A MANE Select NP_000776.1:p.Ile402Asn