Canonical Allele Identifier: CA2038987162
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764159G= , CM000674.2:g.57764159G= GRCh38
NC_000012.11:g.58157942G= , CM000674.1:g.58157942G= GRCh37
NC_000012.10:g.56444209G= NCBI36
NG_007076.1:g.8035C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1235C= ENSP00000518840.1:p.Pro412=
ENST00000713545.1:c.*159C= ENSP00000518841.1:n.*159C=
ENST00000228606.9:c.1154C= MANE Select ENSP00000228606.4:p.Pro385=
ENST00000228606.8:c.1154C= ENSP00000228606.4:p.Pro385=
ENST00000546567.5:c.449C= ENSP00000449472.1:p.Pro150=
ENST00000547344.5:n.1293C=
NM_000785.3:c.1154C= NP_000776.1:p.Pro385=
NM_000785.4:c.1154C= MANE Select NP_000776.1:p.Pro385=