Canonical Allele Identifier: CA1328928957
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812815G= , CM000664.2:g.218812815G= GRCh38
NC_000002.11:g.219677538G= , CM000664.1:g.219677538G= GRCh37
NC_000002.10:g.219385782G= NCBI36
NG_007959.1:g.36067G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.844+66G= MANE Select ENSP00000258415.4:n.844+66G=
ENST00000258415.8:c.844+66G= ENSP00000258415.4:n.844+66G=
ENST00000411688.1:c.562+66G= ENSP00000392671.1:n.562+66G=
ENST00000445971.1:c.*305+66G= ENSP00000404945.1:n.*305+66G=
ENST00000466602.1:n.858G=
ENST00000494263.5:n.1278+66G=
NM_000784.3:c.844+66G= NP_000775.1:n.844+66G=
XM_017003488.2:c.424+66G= XP_016858977.1:n.424+66G=
NM_000784.4:c.844+66G= MANE Select NP_000775.1:n.844+66G=