Canonical Allele Identifier: CA2038991432
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766487G= , CM000674.2:g.57766487G= GRCh38
NC_000012.11:g.58160270G= , CM000674.1:g.58160270G= GRCh37
NC_000012.10:g.56446537G= NCBI36
NG_007076.1:g.5707C=
NG_047060.1:g.10645C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.108-290C=
ENST00000713544.1:c.196-290C= ENSP00000518840.1:n.196-290C=
ENST00000713545.1:c.196-290C= ENSP00000518841.1:n.196-290C=
ENST00000228606.9:c.196-290C= MANE Select ENSP00000228606.4:n.196-290C=
ENST00000228606.8:c.196-290C= ENSP00000228606.4:n.196-290C=
ENST00000546609.1:c.108-290C=
ENST00000547344.5:n.250-290C=
ENST00000552186.1:n.25C=
NM_000785.3:c.196-290C= NP_000776.1:n.196-290C=
NM_000785.4:c.196-290C= MANE Select NP_000776.1:n.196-290C=