Canonical Allele Identifier: CA1328929591
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1943756863
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814174_218814176del , CM000664.2:g.218814174_218814176del GRCh38
NC_000002.11:g.219678897_219678899del , CM000664.1:g.219678897_219678899del GRCh37
NC_000002.10:g.219387141_219387143del NCBI36
NG_007959.1:g.37426_37428del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1171_1173del MANE Select ENSP00000258415.4:p.Lys391del
ENST00000258415.8:c.1171_1173del ENSP00000258415.4:p.Lys391del
ENST00000494263.5:n.1605_1607del
NM_000784.3:c.1171_1173del NP_000775.1:p.Lys391del
XM_017003488.2:c.751_753del XP_016858977.1:p.Lys251del
NM_000784.4:c.1171_1173del MANE Select NP_000775.1:p.Lys391del
Search 100 bp 5'
Search 100 bp 3'