Canonical Allele Identifier: CA2038988785
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765123G= , CM000674.2:g.57765123G= GRCh38
NC_000012.11:g.58158906G= , CM000674.1:g.58158906G= GRCh37
NC_000012.10:g.56445173G= NCBI36
NG_007076.1:g.7071C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.590C=
ENST00000713544.1:c.759C= ENSP00000518840.1:p.Gly253=
ENST00000713545.1:c.736C= ENSP00000518841.1:p.Leu246=
ENST00000228606.9:c.678C= MANE Select ENSP00000228606.4:p.Gly226=
ENST00000228606.8:c.678C= ENSP00000228606.4:p.Gly226=
ENST00000546567.5:c.-28C= ENSP00000449472.1:n.-28C=
ENST00000546609.1:c.590C=
ENST00000547344.5:n.817C=
ENST00000547451.1:n.478C=
NM_000785.3:c.678C= NP_000776.1:p.Gly226=
NM_000785.4:c.678C= MANE Select NP_000776.1:p.Gly226=