Canonical Allele Identifier: CA2038987893
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764660G= , CM000674.2:g.57764660G= GRCh38
NC_000012.11:g.58158443G= , CM000674.1:g.58158443G= GRCh37
NC_000012.10:g.56444710G= NCBI36
NG_007076.1:g.7534C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1044+94C= ENSP00000518840.1:n.1044+94C=
ENST00000713545.1:c.1021+94C= ENSP00000518841.1:n.1021+94C=
ENST00000228606.9:c.963+94C= MANE Select ENSP00000228606.4:n.963+94C=
ENST00000228606.8:c.963+94C= ENSP00000228606.4:n.963+94C=
ENST00000546567.5:c.258+94C= ENSP00000449472.1:n.258+94C=
ENST00000547344.5:n.1102+94C=
ENST00000547451.1:n.857C=
NM_000785.3:c.963+94C= NP_000776.1:n.963+94C=
NM_000785.4:c.963+94C= MANE Select NP_000776.1:n.963+94C=