Canonical Allele Identifier: CA345236
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65899
ClinVar RCV Id: RCV000056145
dbSNP Id: rs587778810

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812684G>A , CM000664.2:g.218812684G>A GRCh38
NC_000002.11:g.219677407G>A , CM000664.1:g.219677407G>A GRCh37
NC_000002.10:g.219385651G>A NCBI36
NG_007959.1:g.35936G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.779G>A MANE Select ENSP00000258415.4:p.Trp260Ter
ENST00000258415.8:c.779G>A ENSP00000258415.4:p.Trp260Ter
ENST00000411688.1:c.497G>A ENSP00000392671.1:p.Trp166Ter
ENST00000445971.1:c.*240G>A ENSP00000404945.1:n.*240G>A
ENST00000466602.1:n.727G>A
ENST00000494263.5:n.1213G>A
NM_000784.3:c.779G>A NP_000775.1:p.Trp260Ter
XM_017003488.2:c.359G>A XP_016858977.1:p.Trp120Ter
NM_000784.4:c.779G>A MANE Select NP_000775.1:p.Trp260Ter