Canonical Allele Identifier: CA2039015282
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763721C= , CM000674.2:g.57763721C= GRCh38
NC_000012.11:g.58157504C= , CM000674.1:g.58157504C= GRCh37
NC_000012.10:g.56443771C= NCBI36
NG_007076.1:g.8473G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1384G= ENSP00000518840.1:p.Gly462=
ENST00000713545.1:c.*308G= ENSP00000518841.1:n.*308G=
ENST00000228606.9:c.1303G= MANE Select ENSP00000228606.4:p.Gly435=
ENST00000228606.8:c.1303G= ENSP00000228606.4:p.Gly435=
ENST00000547344.5:n.1442G=
NM_000785.3:c.1303G= NP_000776.1:p.Gly435=
NM_000785.4:c.1303G= MANE Select NP_000776.1:p.Gly435=