Canonical Allele Identifier: CA10605957
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288055
ClinVar RCV Id: RCV000282062 RCV003105851
dbSNP Id: rs886043798
gnomAD v4: 2-218814088-A-G
MyVariant Identifiers: chr2:g.219678811A>G (hg19) chr2:g.218814088A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814088A>G , CM000664.2:g.218814088A>G GRCh38
NC_000002.11:g.219678811A>G , CM000664.1:g.219678811A>G GRCh37
NC_000002.10:g.219387055A>G NCBI36
NG_007959.1:g.37340A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1085A>G MANE Select ENSP00000258415.4:p.His362Arg
ENST00000258415.8:c.1085A>G ENSP00000258415.4:p.His362Arg
ENST00000466602.1:n.1207A>G
ENST00000494263.5:n.1519A>G
NM_000784.3:c.1085A>G NP_000775.1:p.His362Arg
XM_017003488.2:c.665A>G XP_016858977.1:p.His222Arg
NM_000784.4:c.1085A>G MANE Select NP_000775.1:p.His362Arg
Search 100 bp 5'
Search 100 bp 3'