Canonical Allele Identifier: CA350591703
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2041909
ClinVar RCV Id: RCV002903337
dbSNP Id: rs1242219191
gnomAD v2: 2-219678802-A-C
gnomAD v4: 2-218814079-A-C
MyVariant Identifiers: chr2:g.219678802A>C (hg19) chr2:g.218814079A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814079A>C , CM000664.2:g.218814079A>C GRCh38
NC_000002.11:g.219678802A>C , CM000664.1:g.219678802A>C GRCh37
NC_000002.10:g.219387046A>C NCBI36
NG_007959.1:g.37331A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1076A>C MANE Select ENSP00000258415.4:p.Glu359Ala
ENST00000258415.8:c.1076A>C ENSP00000258415.4:p.Glu359Ala
ENST00000466602.1:n.1198A>C
ENST00000494263.5:n.1510A>C
NM_000784.3:c.1076A>C NP_000775.1:p.Glu359Ala
XM_017003488.2:c.656A>C XP_016858977.1:p.Glu219Ala
NM_000784.4:c.1076A>C MANE Select NP_000775.1:p.Glu359Ala
Search 100 bp 5'
Search 100 bp 3'