Canonical Allele Identifier: CA2112907
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs755434730
ExAC: 2:219679514 AG / A
gnomAD v2: 2-219679514-AG-A
gnomAD v4: 2-218814791-AG-A
MyVariant Identifiers: chr2:g.219679515del (hg19) chr2:g.218814792del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814794del , CM000664.2:g.218814794del GRCh38
NC_000002.11:g.219679517del , CM000664.1:g.219679517del GRCh37
NC_000002.10:g.219387761del NCBI36
NG_007959.1:g.38046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1476+37del MANE Select ENSP00000258415.4:n.1476+37del
ENST00000258415.8:c.1476+37del ENSP00000258415.4:n.1476+37del
ENST00000494263.5:n.2188+37del
NM_000784.3:c.1476+37del NP_000775.1:n.1476+37del
XM_017003488.2:c.1056+37del XP_016858977.1:n.1056+37del
NM_000784.4:c.1476+37del MANE Select NP_000775.1:n.1476+37del
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