Canonical Allele Identifier: CA2039015764
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763919T= , CM000674.2:g.57763919T= GRCh38
NC_000012.11:g.58157702T= , CM000674.1:g.58157702T= GRCh37
NC_000012.10:g.56443969T= NCBI36
NG_007076.1:g.8275A=

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1297-111A= ENSP00000518840.1:n.1297-111A=
ENST00000713545.1:c.*221-111A= ENSP00000518841.1:n.*221-111A=
ENST00000228606.9:c.1216-111A= MANE Select ENSP00000228606.4:n.1216-111A=
ENST00000228606.8:c.1216-111A= ENSP00000228606.4:n.1216-111A=
ENST00000547344.5:n.1355-111A=
NM_000785.3:c.1216-111A= NP_000776.1:n.1216-111A=
NM_000785.4:c.1216-111A= MANE Select NP_000776.1:n.1216-111A=