Canonical Allele Identifier: CA2038990305
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765834T= , CM000674.2:g.57765834T= GRCh38
NC_000012.11:g.58159617T= , CM000674.1:g.58159617T= GRCh37
NC_000012.10:g.56445884T= NCBI36
NG_007076.1:g.6360A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.298+173A=
ENST00000713544.1:c.386+173A= ENSP00000518840.1:n.386+173A=
ENST00000713545.1:c.386+173A= ENSP00000518841.1:n.386+173A=
ENST00000228606.9:c.386+173A= MANE Select ENSP00000228606.4:n.386+173A=
ENST00000228606.8:c.386+173A= ENSP00000228606.4:n.386+173A=
ENST00000546496.1:n.214+173A=
ENST00000546609.1:c.298+173A=
ENST00000547344.5:n.440+173A=
ENST00000552186.1:n.505+173A=
NM_000785.3:c.386+173A= NP_000776.1:n.386+173A=
NM_000785.4:c.386+173A= MANE Select NP_000776.1:n.386+173A=