Canonical Allele Identifier: CA2796149611
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764233dup , CM000674.2:g.57764233dup GRCh38
NC_000012.11:g.58158016dup , CM000674.1:g.58158016dup GRCh37
NC_000012.10:g.56444283dup NCBI36
NG_007076.1:g.7965dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1218-53dup ENSP00000518840.1:n.1218-53dup
ENST00000713545.1:c.*142-53dup ENSP00000518841.1:n.*142-53dup
ENST00000228606.9:c.1137-53dup MANE Select ENSP00000228606.4:n.1137-53dup
ENST00000228606.8:c.1137-53dup ENSP00000228606.4:n.1137-53dup
ENST00000546567.5:c.432-53dup ENSP00000449472.1:n.432-53dup
ENST00000547344.5:n.1276-53dup
NM_000785.3:c.1137-53dup NP_000776.1:n.1137-53dup
NM_000785.4:c.1137-53dup MANE Select NP_000776.1:n.1137-53dup