Canonical Allele Identifier: CA604844577
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs1241363428
gnomAD v2: 12-48302556-T-A
gnomAD v3: 12-47908773-T-A
gnomAD v4: 12-47908773-T-A
MyVariant Identifiers: chr12:g.48302556T>A (hg19) chr12:g.47908773T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47908773T>A , CM000674.2:g.47908773T>A GRCh38
NC_000012.11:g.48302556T>A , CM000674.1:g.48302556T>A GRCh37
NC_000012.10:g.46588823T>A NCBI36
NG_008731.1:g.1259A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395324.6:c.-83-25999A>T ENSP00000378734.2:n.-83-25999A>T
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