Canonical Allele Identifier: CA2038991398
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766459A= , CM000674.2:g.57766459A= GRCh38
NC_000012.11:g.58160242A= , CM000674.1:g.58160242A= GRCh37
NC_000012.10:g.56446509A= NCBI36
NG_007076.1:g.5735T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.108-262T=
ENST00000713544.1:c.196-262T= ENSP00000518840.1:n.196-262T=
ENST00000713545.1:c.196-262T= ENSP00000518841.1:n.196-262T=
ENST00000228606.9:c.196-262T= MANE Select ENSP00000228606.4:n.196-262T=
ENST00000228606.8:c.196-262T= ENSP00000228606.4:n.196-262T=
ENST00000546609.1:c.108-262T=
ENST00000547344.5:n.250-262T=
ENST00000552186.1:n.53T=
NM_000785.3:c.196-262T= NP_000776.1:n.196-262T=
NM_000785.4:c.196-262T= MANE Select NP_000776.1:n.196-262T=