Canonical Allele Identifier: CA2038989148
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765251T= , CM000674.2:g.57765251T= GRCh38
NC_000012.11:g.58159034T= , CM000674.1:g.58159034T= GRCh37
NC_000012.10:g.56445301T= NCBI36
NG_007076.1:g.6943A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.502-40A=
ENST00000713544.1:c.671-40A= ENSP00000518840.1:n.671-40A=
ENST00000713545.1:c.648-40A= ENSP00000518841.1:n.648-40A=
ENST00000228606.9:c.590-40A= MANE Select ENSP00000228606.4:n.590-40A=
ENST00000228606.8:c.590-40A= ENSP00000228606.4:n.590-40A=
ENST00000546567.5:c.-116-40A= ENSP00000449472.1:n.-116-40A=
ENST00000546609.1:c.502-40A=
ENST00000547344.5:n.689A=
ENST00000547451.1:n.390-40A=
NM_000785.3:c.590-40A= NP_000776.1:n.590-40A=
NM_000785.4:c.590-40A= MANE Select NP_000776.1:n.590-40A=