Canonical Allele Identifier: CA2038990952
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766156G= , CM000674.2:g.57766156G= GRCh38
NC_000012.11:g.58159939G= , CM000674.1:g.58159939G= GRCh37
NC_000012.10:g.56446206G= NCBI36
NG_007076.1:g.6038C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.149C=
ENST00000713544.1:c.237C= ENSP00000518840.1:p.Ser79=
ENST00000713545.1:c.237C= ENSP00000518841.1:p.Ser79=
ENST00000228606.9:c.237C= MANE Select ENSP00000228606.4:p.Ser79=
ENST00000228606.8:c.237C= ENSP00000228606.4:p.Ser79=
ENST00000546496.1:n.65C=
ENST00000546609.1:c.149C=
ENST00000547344.5:n.291C=
ENST00000552186.1:n.356C=
NM_000785.3:c.237C= NP_000776.1:p.Ser79=
NM_000785.4:c.237C= MANE Select NP_000776.1:p.Ser79=