Canonical Allele Identifier: CA2038990951
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766154A= , CM000674.2:g.57766154A= GRCh38
NC_000012.11:g.58159937A= , CM000674.1:g.58159937A= GRCh37
NC_000012.10:g.56446204A= NCBI36
NG_007076.1:g.6040T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.151T=
ENST00000713544.1:c.239T= ENSP00000518840.1:p.Phe80=
ENST00000713545.1:c.239T= ENSP00000518841.1:p.Phe80=
ENST00000228606.9:c.239T= MANE Select ENSP00000228606.4:p.Phe80=
ENST00000228606.8:c.239T= ENSP00000228606.4:p.Phe80=
ENST00000546496.1:n.67T=
ENST00000546609.1:c.151T=
ENST00000547344.5:n.293T=
ENST00000552186.1:n.358T=
NM_000785.3:c.239T= NP_000776.1:p.Phe80=
NM_000785.4:c.239T= MANE Select NP_000776.1:p.Phe80=