Canonical Allele Identifier: CA431234351
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 794395
ClinVar RCV Id: RCV000977647
dbSNP Id: rs1379650960
gnomAD v2: 2-219679645-G-A
gnomAD v3: 2-218814922-G-A
gnomAD v4: 2-218814922-G-A
COSMIC: COSM4675914
MyVariant Identifiers: chr2:g.219679645G>A (hg19) chr2:g.218814922G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814922G>A , CM000664.2:g.218814922G>A GRCh38
NC_000002.11:g.219679645G>A , CM000664.1:g.219679645G>A GRCh37
NC_000002.10:g.219387889G>A NCBI36
NG_007959.1:g.38174G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1488G>A MANE Select ENSP00000258415.4:p.Lys496=
ENST00000258415.8:c.1488G>A ENSP00000258415.4:p.Lys496=
ENST00000494263.5:n.2200G>A
NM_000784.3:c.1488G>A NP_000775.1:p.Lys496=
XM_017003488.2:c.1068G>A XP_016858977.1:p.Lys356=
NM_000784.4:c.1488G>A MANE Select NP_000775.1:p.Lys496=
Search 100 bp 5'
Search 100 bp 3'