Canonical Allele Identifier: CA1328928880
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812670C= , CM000664.2:g.218812670C= GRCh38
NC_000002.11:g.219677393C= , CM000664.1:g.219677393C= GRCh37
NC_000002.10:g.219385637C= NCBI36
NG_007959.1:g.35922C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.765C= MANE Select ENSP00000258415.4:p.Thr255=
ENST00000258415.8:c.765C= ENSP00000258415.4:p.Thr255=
ENST00000411688.1:c.483C= ENSP00000392671.1:p.Thr161=
ENST00000445971.1:c.*226C= ENSP00000404945.1:n.*226C=
ENST00000466602.1:n.713C=
ENST00000494263.5:n.1199C=
NM_000784.3:c.765C= NP_000775.1:p.Thr255=
XM_017003488.2:c.345C= XP_016858977.1:p.Thr115=
NM_000784.4:c.765C= MANE Select NP_000775.1:p.Thr255=