Canonical Allele Identifier: CA431234173
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1537516
ClinVar RCV Id: RCV002092699
dbSNP Id: rs2105980920
gnomAD v4: 2-218814110-G-A
MyVariant Identifiers: chr2:g.219678833G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814110G>A , CM000664.2:g.218814110G>A GRCh38
NC_000002.11:g.219678833G>A , CM000664.1:g.219678833G>A GRCh37
NC_000002.10:g.219387077G>A NCBI36
NG_007959.1:g.37362G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1107G>A MANE Select ENSP00000258415.4:p.Val369=
ENST00000258415.8:c.1107G>A ENSP00000258415.4:p.Val369=
ENST00000494263.5:n.1541G>A
NM_000784.3:c.1107G>A NP_000775.1:p.Val369=
XM_017003488.2:c.687G>A XP_016858977.1:p.Val229=
NM_000784.4:c.1107G>A MANE Select NP_000775.1:p.Val369=
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