Canonical Allele Identifier: CA1328929010
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812922A= , CM000664.2:g.218812922A= GRCh38
NC_000002.11:g.219677645A= , CM000664.1:g.219677645A= GRCh37
NC_000002.10:g.219385889A= NCBI36
NG_007959.1:g.36174A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.845-2A= MANE Select ENSP00000258415.4:n.845-2A=
ENST00000258415.8:c.845-2A= ENSP00000258415.4:n.845-2A=
ENST00000411688.1:c.563-2A= ENSP00000392671.1:n.563-2A=
ENST00000445971.1:c.*306-2A= ENSP00000404945.1:n.*306-2A=
ENST00000466602.1:n.965A=
ENST00000494263.5:n.1279-2A=
NM_000784.3:c.845-2A= NP_000775.1:n.845-2A=
XM_017003488.2:c.425-2A= XP_016858977.1:n.425-2A=
NM_000784.4:c.845-2A= MANE Select NP_000775.1:n.845-2A=