Canonical Allele Identifier: CA1328928891
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812693C= , CM000664.2:g.218812693C= GRCh38
NC_000002.11:g.219677416C= , CM000664.1:g.219677416C= GRCh37
NC_000002.10:g.219385660C= NCBI36
NG_007959.1:g.35945C=

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.788C= MANE Select ENSP00000258415.4:p.Pro263=
ENST00000258415.8:c.788C= ENSP00000258415.4:p.Pro263=
ENST00000411688.1:c.506C= ENSP00000392671.1:p.Pro169=
ENST00000445971.1:c.*249C= ENSP00000404945.1:n.*249C=
ENST00000466602.1:n.736C=
ENST00000494263.5:n.1222C=
NM_000784.3:c.788C= NP_000775.1:p.Pro263=
XM_017003488.2:c.368C= XP_016858977.1:p.Pro123=
NM_000784.4:c.788C= MANE Select NP_000775.1:p.Pro263=