Canonical Allele Identifier: CA1328916306
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782562A= , CM000664.2:g.218782562A= GRCh38
NC_000002.11:g.219647285A= , CM000664.1:g.219647285A= GRCh37
NC_000002.10:g.219355529A= NCBI36
NG_007959.1:g.5814A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.255+125A= MANE Select ENSP00000258415.4:n.255+125A=
ENST00000258415.8:c.255+125A= ENSP00000258415.4:n.255+125A=
ENST00000445971.1:c.255+125A= ENSP00000404945.1:n.255+125A=
ENST00000466602.1:n.264+125A=
ENST00000494263.5:n.689+125A=
NM_000784.3:c.255+125A= NP_000775.1:n.255+125A=
XM_017003488.2:c.26+125A= XP_016858977.1:n.26+125A=
NM_000784.4:c.255+125A= MANE Select NP_000775.1:n.255+125A=