Canonical Allele Identifier: CA385502289
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764100T>C , CM000674.2:g.57764100T>C GRCh38
NC_000012.11:g.58157883T>C , CM000674.1:g.58157883T>C GRCh37
NC_000012.10:g.56444150T>C NCBI36
NG_007076.1:g.8094A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1294A>G ENSP00000518840.1:p.Asn432Asp
ENST00000713545.1:c.*218A>G ENSP00000518841.1:n.*218A>G
ENST00000228606.9:c.1213A>G MANE Select ENSP00000228606.4:p.Asn405Asp
ENST00000228606.8:c.1213A>G ENSP00000228606.4:p.Asn405Asp
ENST00000547344.5:n.1352A>G
NM_000785.3:c.1213A>G NP_000776.1:p.Asn405Asp
NM_000785.4:c.1213A>G MANE Select NP_000776.1:p.Asn405Asp