Canonical Allele Identifier: CA1328916277
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782501T= , CM000664.2:g.218782501T= GRCh38
NC_000002.11:g.219647224T= , CM000664.1:g.219647224T= GRCh37
NC_000002.10:g.219355468T= NCBI36
NG_007959.1:g.5753T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.255+64T= MANE Select ENSP00000258415.4:n.255+64T=
ENST00000258415.8:c.255+64T= ENSP00000258415.4:n.255+64T=
ENST00000445971.1:c.255+64T= ENSP00000404945.1:n.255+64T=
ENST00000466602.1:n.264+64T=
ENST00000494263.5:n.689+64T=
NM_000784.3:c.255+64T= NP_000775.1:n.255+64T=
XM_017003488.2:c.26+64T= XP_016858977.1:n.26+64T=
NM_000784.4:c.255+64T= MANE Select NP_000775.1:n.255+64T=