Canonical Allele Identifier: CA1328929549
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814086G= , CM000664.2:g.218814086G= GRCh38
NC_000002.11:g.219678809G= , CM000664.1:g.219678809G= GRCh37
NC_000002.10:g.219387053G= NCBI36
NG_007959.1:g.37338G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1083G= MANE Select ENSP00000258415.4:p.Leu361=
ENST00000258415.8:c.1083G= ENSP00000258415.4:p.Leu361=
ENST00000466602.1:n.1205G=
ENST00000494263.5:n.1517G=
NM_000784.3:c.1083G= NP_000775.1:p.Leu361=
XM_017003488.2:c.663G= XP_016858977.1:p.Leu221=
NM_000784.4:c.1083G= MANE Select NP_000775.1:p.Leu361=