Canonical Allele Identifier: CA1328929602
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814186C= , CM000664.2:g.218814186C= GRCh38
NC_000002.11:g.219678909C= , CM000664.1:g.219678909C= GRCh37
NC_000002.10:g.219387153C= NCBI36
NG_007959.1:g.37438C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1183C= MANE Select ENSP00000258415.4:p.Arg395=
ENST00000258415.8:c.1183C= ENSP00000258415.4:p.Arg395=
ENST00000494263.5:n.1617C=
NM_000784.3:c.1183C= NP_000775.1:p.Arg395=
XM_017003488.2:c.763C= XP_016858977.1:p.Arg255=
NM_000784.4:c.1183C= MANE Select NP_000775.1:p.Arg395=