Canonical Allele Identifier: CA1328929859
Gene: CYP27A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814726C= , CM000664.2:g.218814726C= GRCh38
NC_000002.11:g.219679449C= , CM000664.1:g.219679449C= GRCh37
NC_000002.10:g.219387693C= NCBI36
NG_007959.1:g.37978C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1445C= MANE Select ENSP00000258415.4:p.Ala482=
ENST00000258415.8:c.1445C= ENSP00000258415.4:p.Ala482=
ENST00000494263.5:n.2157C=
NM_000784.3:c.1445C= NP_000775.1:p.Ala482=
XM_017003488.2:c.1025C= XP_016858977.1:p.Ala342=
NM_000784.4:c.1445C= MANE Select NP_000775.1:p.Ala482=
Search 100 bp 5'
Search 100 bp 3'