Canonical Allele Identifier: CA2038990198
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765779C= , CM000674.2:g.57765779C= GRCh38
NC_000012.11:g.58159562C= , CM000674.1:g.58159562C= GRCh37
NC_000012.10:g.56445829C= NCBI36
NG_007076.1:g.6415G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.298+228G=
ENST00000713544.1:c.387-199G= ENSP00000518840.1:n.387-199G=
ENST00000713545.1:c.387-222G= ENSP00000518841.1:n.387-222G=
ENST00000228606.9:c.386+228G= MANE Select ENSP00000228606.4:n.386+228G=
ENST00000228606.8:c.386+228G= ENSP00000228606.4:n.386+228G=
ENST00000546496.1:n.214+228G=
ENST00000546609.1:c.298+228G=
ENST00000547344.5:n.440+228G=
ENST00000552186.1:n.505+228G=
NM_000785.3:c.386+228G= NP_000776.1:n.386+228G=
NM_000785.4:c.386+228G= MANE Select NP_000776.1:n.386+228G=