Canonical Allele Identifier: CA10612827
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 334363
ClinVar RCV Id: RCV000373874
dbSNP Id: rs528284503
gnomAD v2: 2-219646571-C-T
gnomAD v3: 2-218781848-C-T
gnomAD v4: 2-218781848-C-T
MyVariant Identifiers: chr2:g.219646571C>T (hg19) chr2:g.218781848C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218781848C>T , CM000664.2:g.218781848C>T GRCh38
NC_000002.11:g.219646571C>T , CM000664.1:g.219646571C>T GRCh37
NC_000002.10:g.219354815C>T NCBI36
NG_007959.1:g.5100C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.8:c.-335C>T ENSP00000258415.4:n.-335C>T
ENST00000494263.5:n.100C>T
NM_000784.3:c.-335C>T NP_000775.1:n.-335C>T
XM_017003488.2:c.-564C>T XP_016858977.1:n.-564C>T
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