Canonical Allele Identifier: CA2038990871
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766112A= , CM000674.2:g.57766112A= GRCh38
NC_000012.11:g.58159895A= , CM000674.1:g.58159895A= GRCh37
NC_000012.10:g.56446162A= NCBI36
NG_007076.1:g.6082T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.193T=
ENST00000713544.1:c.281T= ENSP00000518840.1:p.Val94=
ENST00000713545.1:c.281T= ENSP00000518841.1:p.Val94=
ENST00000228606.9:c.281T= MANE Select ENSP00000228606.4:p.Val94=
ENST00000228606.8:c.281T= ENSP00000228606.4:p.Val94=
ENST00000546496.1:n.109T=
ENST00000546609.1:c.193T=
ENST00000547344.5:n.335T=
ENST00000552186.1:n.400T=
NM_000785.3:c.281T= NP_000776.1:p.Val94=
NM_000785.4:c.281T= MANE Select NP_000776.1:p.Val94=