Canonical Allele Identifier: CA915941723
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 792231
ClinVar RCV Id: RCV000975322
dbSNP Id: rs1575206765
gnomAD v4: 2-218814194-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814194C>G , CM000664.2:g.218814194C>G GRCh38
NC_000002.11:g.219678917C>G , CM000664.1:g.219678917C>G GRCh37
NC_000002.10:g.219387161C>G NCBI36
NG_007959.1:g.37446C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1184+7C>G MANE Select ENSP00000258415.4:n.1184+7C>G
ENST00000258415.8:c.1184+7C>G ENSP00000258415.4:n.1184+7C>G
ENST00000494263.5:n.1625C>G
NM_000784.3:c.1184+7C>G NP_000775.1:n.1184+7C>G
XM_017003488.2:c.764+7C>G XP_016858977.1:n.764+7C>G
NM_000784.4:c.1184+7C>G MANE Select NP_000775.1:n.1184+7C>G
Search 100 bp 5'
Search 100 bp 3'