Canonical Allele Identifier: CA1328929554
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814093G= , CM000664.2:g.218814093G= GRCh38
NC_000002.11:g.219678816G= , CM000664.1:g.219678816G= GRCh37
NC_000002.10:g.219387060G= NCBI36
NG_007959.1:g.37345G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1090G= MANE Select ENSP00000258415.4:p.Glu364=
ENST00000258415.8:c.1090G= ENSP00000258415.4:p.Glu364=
ENST00000494263.5:n.1524G=
NM_000784.3:c.1090G= NP_000775.1:p.Glu364=
XM_017003488.2:c.670G= XP_016858977.1:p.Glu224=
NM_000784.4:c.1090G= MANE Select NP_000775.1:p.Glu364=