Canonical Allele Identifier: CA764918456
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1168265797
gnomAD v3: 2-218814207-TG-T
gnomAD v4: 2-218814207-TG-T
MyVariant Identifiers: chr2:g.219678931del (hg19) chr2:g.218814208del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814213del , CM000664.2:g.218814213del GRCh38
NC_000002.11:g.219678936del , CM000664.1:g.219678936del GRCh37
NC_000002.10:g.219387180del NCBI36
NG_007959.1:g.37465del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1184+26del MANE Select ENSP00000258415.4:n.1184+26del
ENST00000258415.8:c.1184+26del ENSP00000258415.4:n.1184+26del
ENST00000494263.5:n.1644del
NM_000784.3:c.1184+26del NP_000775.1:n.1184+26del
XM_017003488.2:c.764+26del XP_016858977.1:n.764+26del
NM_000784.4:c.1184+26del MANE Select NP_000775.1:n.1184+26del
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