Canonical Allele Identifier: CA236506032
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs911219722
gnomAD v2: 12-48302499-T-C
gnomAD v3: 12-47908716-T-C
gnomAD v4: 12-47908716-T-C
MyVariant Identifiers: chr12:g.48302499T>C (hg19) chr12:g.47908716T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47908716T>C , CM000674.2:g.47908716T>C GRCh38
NC_000012.11:g.48302499T>C , CM000674.1:g.48302499T>C GRCh37
NC_000012.10:g.46588766T>C NCBI36
NG_008731.1:g.1316A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000395324.6:c.-83-25942A>G ENSP00000378734.2:n.-83-25942A>G
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