Canonical Allele Identifier: CA10612829
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 334366
ClinVar RCV Id: RCV000372604
dbSNP Id: rs886055629
gnomAD v3: 2-218782021-C-T
gnomAD v4: 2-218782021-C-T
MyVariant Identifiers: chr2:g.219646744C>T (hg19) chr2:g.218782021C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782021C>T , CM000664.2:g.218782021C>T GRCh38
NC_000002.11:g.219646744C>T , CM000664.1:g.219646744C>T GRCh37
NC_000002.10:g.219354988C>T NCBI36
NG_007959.1:g.5273C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.8:c.-162C>T ENSP00000258415.4:n.-162C>T
ENST00000494263.5:n.273C>T
NM_000784.3:c.-162C>T NP_000775.1:n.-162C>T
XM_017003488.2:c.-391C>T XP_016858977.1:n.-391C>T
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