Canonical Allele Identifier: CA2039015062
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763653C= , CM000674.2:g.57763653C= GRCh38
NC_000012.11:g.58157436C= , CM000674.1:g.58157436C= GRCh37
NC_000012.10:g.56443703C= NCBI36
NG_007076.1:g.8541G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1452G= ENSP00000518840.1:p.Gly484=
ENST00000713545.1:c.*376G= ENSP00000518841.1:n.*376G=
ENST00000228606.9:c.1371G= MANE Select ENSP00000228606.4:p.Gly457=
ENST00000228606.8:c.1371G= ENSP00000228606.4:p.Gly457=
ENST00000547344.5:n.1510G=
NM_000785.3:c.1371G= NP_000776.1:p.Gly457=
NM_000785.4:c.1371G= MANE Select NP_000776.1:p.Gly457=