Canonical Allele Identifier: CA385503306
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764403T>C , CM000674.2:g.57764403T>C GRCh38
NC_000012.11:g.58158186T>C , CM000674.1:g.58158186T>C GRCh37
NC_000012.10:g.56444453T>C NCBI36
NG_007076.1:g.7791A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1192A>G ENSP00000518840.1:p.Lys398Glu
ENST00000713545.1:c.*116A>G ENSP00000518841.1:n.*116A>G
ENST00000228606.9:c.1111A>G MANE Select ENSP00000228606.4:p.Lys371Glu
ENST00000228606.8:c.1111A>G ENSP00000228606.4:p.Lys371Glu
ENST00000546567.5:c.406A>G ENSP00000449472.1:p.Lys136Glu
ENST00000547344.5:n.1250A>G
NM_000785.3:c.1111A>G NP_000776.1:p.Lys371Glu
NM_000785.4:c.1111A>G MANE Select NP_000776.1:p.Lys371Glu