Canonical Allele Identifier: CA689466303
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs1259031119
gnomAD v3: 12-47908665-G-A
gnomAD v4: 12-47908665-G-A
MyVariant Identifiers: chr12:g.48302448G>A (hg19) chr12:g.47908665G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47908665G>A , CM000674.2:g.47908665G>A GRCh38
NC_000012.11:g.48302448G>A , CM000674.1:g.48302448G>A GRCh37
NC_000012.10:g.46588715G>A NCBI36
NG_008731.1:g.1367C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395324.6:c.-83-25891C>T ENSP00000378734.2:n.-83-25891C>T
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