Canonical Allele Identifier: CA65834624
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1158133
ClinVar RCV Id: RCV001501469 RCV002449328
dbSNP Id: rs963559886
gnomAD v2: 2-219678815-G-A
gnomAD v3: 2-218814092-G-A
gnomAD v4: 2-218814092-G-A
MyVariant Identifiers: chr2:g.219678815G>A (hg19) chr2:g.218814092G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814092G>A , CM000664.2:g.218814092G>A GRCh38
NC_000002.11:g.219678815G>A , CM000664.1:g.219678815G>A GRCh37
NC_000002.10:g.219387059G>A NCBI36
NG_007959.1:g.37344G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1089G>A MANE Select ENSP00000258415.4:p.Glu363=
ENST00000258415.8:c.1089G>A ENSP00000258415.4:p.Glu363=
ENST00000494263.5:n.1523G>A
NM_000784.3:c.1089G>A NP_000775.1:p.Glu363=
XM_017003488.2:c.669G>A XP_016858977.1:p.Glu223=
NM_000784.4:c.1089G>A MANE Select NP_000775.1:p.Glu363=
Search 100 bp 5'
Search 100 bp 3'