Canonical Allele Identifier: CA431414239
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1091258
ClinVar RCV Id: RCV001410683
dbSNP Id: rs1182190234
gnomAD v3: 2-218812586-C-T
gnomAD v4: 2-218812586-C-T
MyVariant Identifiers: chr2:g.219677309C>T (hg19) chr2:g.218812586C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812586C>T , CM000664.2:g.218812586C>T GRCh38
NC_000002.11:g.219677309C>T , CM000664.1:g.219677309C>T GRCh37
NC_000002.10:g.219385553C>T NCBI36
NG_007959.1:g.35838C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.681C>T MANE Select ENSP00000258415.4:p.Gly227=
ENST00000258415.8:c.681C>T ENSP00000258415.4:p.Gly227=
ENST00000411688.1:c.399C>T ENSP00000392671.1:p.Gly133=
ENST00000445971.1:c.*142C>T ENSP00000404945.1:n.*142C>T
ENST00000466602.1:n.629C>T
ENST00000494263.5:n.1115C>T
NM_000784.3:c.681C>T NP_000775.1:p.Gly227=
XM_017003488.2:c.261C>T XP_016858977.1:p.Gly87=
NM_000784.4:c.681C>T MANE Select NP_000775.1:p.Gly227=
Search 100 bp 5'
Search 100 bp 3'