Canonical Allele Identifier: CA1328916203
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782356G= , CM000664.2:g.218782356G= GRCh38
NC_000002.11:g.219647079G= , CM000664.1:g.219647079G= GRCh37
NC_000002.10:g.219355323G= NCBI36
NG_007959.1:g.5608G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.174G= MANE Select ENSP00000258415.4:p.Glu58=
ENST00000258415.8:c.174G= ENSP00000258415.4:p.Glu58=
ENST00000445971.1:c.174G= ENSP00000404945.1:p.Glu58=
ENST00000466602.1:n.183G=
ENST00000494263.5:n.608G=
NM_000784.3:c.174G= NP_000775.1:p.Glu58=
XM_017003488.2:c.-56G= XP_016858977.1:n.-56G=
NM_000784.4:c.174G= MANE Select NP_000775.1:p.Glu58=