Canonical Allele Identifier: CA385503634
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764450G>C , CM000674.2:g.57764450G>C GRCh38
NC_000012.11:g.58158233G>C , CM000674.1:g.58158233G>C GRCh37
NC_000012.10:g.56444500G>C NCBI36
NG_007076.1:g.7744C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1145C>G ENSP00000518840.1:p.Ser382Cys
ENST00000713545.1:c.*69C>G ENSP00000518841.1:n.*69C>G
ENST00000228606.9:c.1064C>G MANE Select ENSP00000228606.4:p.Ser355Cys
ENST00000228606.8:c.1064C>G ENSP00000228606.4:p.Ser355Cys
ENST00000546567.5:c.359C>G ENSP00000449472.1:p.Ser120Cys
ENST00000547344.5:n.1203C>G
NM_000785.3:c.1064C>G NP_000776.1:p.Ser355Cys
NM_000785.4:c.1064C>G MANE Select NP_000776.1:p.Ser355Cys