Canonical Allele Identifier: CA2039016065
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764068C= , CM000674.2:g.57764068C= GRCh38
NC_000012.11:g.58157851C= , CM000674.1:g.58157851C= GRCh37
NC_000012.10:g.56444118C= NCBI36
NG_007076.1:g.8126G=

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1296+30G= ENSP00000518840.1:n.1296+30G=
ENST00000713545.1:c.*220+30G= ENSP00000518841.1:n.*220+30G=
ENST00000228606.9:c.1215+30G= MANE Select ENSP00000228606.4:n.1215+30G=
ENST00000228606.8:c.1215+30G= ENSP00000228606.4:n.1215+30G=
ENST00000547344.5:n.1354+30G=
NM_000785.3:c.1215+30G= NP_000776.1:n.1215+30G=
NM_000785.4:c.1215+30G= MANE Select NP_000776.1:n.1215+30G=