Canonical Allele Identifier: CA340212
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4256
dbSNP Id: rs397515353

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812923G>A , CM000664.2:g.218812923G>A GRCh38
NC_000002.11:g.219677646G>A , CM000664.1:g.219677646G>A GRCh37
NC_000002.10:g.219385890G>A NCBI36
NG_007959.1:g.36175G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.845-1G>A MANE Select ENSP00000258415.4:n.845-1G>A
ENST00000258415.8:c.845-1G>A ENSP00000258415.4:n.845-1G>A
ENST00000411688.1:c.563-1G>A ENSP00000392671.1:n.563-1G>A
ENST00000445971.1:c.*306-1G>A ENSP00000404945.1:n.*306-1G>A
ENST00000466602.1:n.966G>A
ENST00000494263.5:n.1279-1G>A
NM_000784.3:c.845-1G>A NP_000775.1:n.845-1G>A
XM_017003488.2:c.425-1G>A XP_016858977.1:n.425-1G>A
NM_000784.4:c.845-1G>A MANE Select NP_000775.1:n.845-1G>A