Canonical Allele Identifier: CA65834783
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs949118725
gnomAD v2: 2-219679051-C-T
gnomAD v3: 2-218814328-C-T
gnomAD v4: 2-218814328-C-T
MyVariant Identifiers: chr2:g.219679051C>T (hg19) chr2:g.218814328C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814328C>T , CM000664.2:g.218814328C>T GRCh38
NC_000002.11:g.219679051C>T , CM000664.1:g.219679051C>T GRCh37
NC_000002.10:g.219387295C>T NCBI36
NG_007959.1:g.37580C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1185-52C>T MANE Select ENSP00000258415.4:n.1185-52C>T
ENST00000258415.8:c.1185-52C>T ENSP00000258415.4:n.1185-52C>T
ENST00000494263.5:n.1759C>T
NM_000784.3:c.1185-52C>T NP_000775.1:n.1185-52C>T
XM_017003488.2:c.765-52C>T XP_016858977.1:n.765-52C>T
NM_000784.4:c.1185-52C>T MANE Select NP_000775.1:n.1185-52C>T
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