Canonical Allele Identifier: CA1328916196
Gene: CYP27A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782341G= , CM000664.2:g.218782341G= GRCh38
NC_000002.11:g.219647064G= , CM000664.1:g.219647064G= GRCh37
NC_000002.10:g.219355308G= NCBI36
NG_007959.1:g.5593G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.159G= MANE Select ENSP00000258415.4:p.Arg53=
ENST00000258415.8:c.159G= ENSP00000258415.4:p.Arg53=
ENST00000445971.1:c.159G= ENSP00000404945.1:p.Arg53=
ENST00000466602.1:n.168G=
ENST00000494263.5:n.593G=
NM_000784.3:c.159G= NP_000775.1:p.Arg53=
XM_017003488.2:c.-71G= XP_016858977.1:n.-71G=
NM_000784.4:c.159G= MANE Select NP_000775.1:p.Arg53=
Search 100 bp 5'
Search 100 bp 3'