Canonical Allele Identifier: CA1328929612
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814204T= , CM000664.2:g.218814204T= GRCh38
NC_000002.11:g.219678927T= , CM000664.1:g.219678927T= GRCh37
NC_000002.10:g.219387171T= NCBI36
NG_007959.1:g.37456T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1184+17T= MANE Select ENSP00000258415.4:n.1184+17T=
ENST00000258415.8:c.1184+17T= ENSP00000258415.4:n.1184+17T=
ENST00000494263.5:n.1635T=
NM_000784.3:c.1184+17T= NP_000775.1:n.1184+17T=
XM_017003488.2:c.764+17T= XP_016858977.1:n.764+17T=
NM_000784.4:c.1184+17T= MANE Select NP_000775.1:n.1184+17T=