Canonical Allele Identifier: CA2038987804
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764604G= , CM000674.2:g.57764604G= GRCh38
NC_000012.11:g.58158387G= , CM000674.1:g.58158387G= GRCh37
NC_000012.10:g.56444654G= NCBI36
NG_007076.1:g.7590C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1045-54C= ENSP00000518840.1:n.1045-54C=
ENST00000713545.1:c.1022-54C= ENSP00000518841.1:n.1022-54C=
ENST00000228606.9:c.964-54C= MANE Select ENSP00000228606.4:n.964-54C=
ENST00000228606.8:c.964-54C= ENSP00000228606.4:n.964-54C=
ENST00000546567.5:c.259-54C= ENSP00000449472.1:n.259-54C=
ENST00000547344.5:n.1103-54C=
ENST00000547451.1:n.913C=
NM_000785.3:c.964-54C= NP_000776.1:n.964-54C=
NM_000785.4:c.964-54C= MANE Select NP_000776.1:n.964-54C=