Canonical Allele Identifier: CA2038988819
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765129A= , CM000674.2:g.57765129A= GRCh38
NC_000012.11:g.58158912A= , CM000674.1:g.58158912A= GRCh37
NC_000012.10:g.56445179A= NCBI36
NG_007076.1:g.7065T=

Transcript Alleles

HGVS Amino-acid change
ENST00000546609.2:n.584T=
ENST00000713544.1:c.753T= ENSP00000518840.1:p.Ala251=
ENST00000713545.1:c.730T= ENSP00000518841.1:p.Cys244=
ENST00000228606.9:c.672T= MANE Select ENSP00000228606.4:p.Ala224=
ENST00000228606.8:c.672T= ENSP00000228606.4:p.Ala224=
ENST00000546567.5:c.-34T= ENSP00000449472.1:n.-34T=
ENST00000546609.1:c.584T=
ENST00000547344.5:n.811T=
ENST00000547451.1:n.472T=
NM_000785.3:c.672T= NP_000776.1:p.Ala224=
NM_000785.4:c.672T= MANE Select NP_000776.1:p.Ala224=