Canonical Allele Identifier: CA689466379
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs1477831532
MyVariant Identifiers: chr12:g.48302596T>A (hg19) chr12:g.47908813T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47908813T>A , CM000674.2:g.47908813T>A GRCh38
NC_000012.11:g.48302596T>A , CM000674.1:g.48302596T>A GRCh37
NC_000012.10:g.46588863T>A NCBI36
NG_008731.1:g.1219A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395324.6:c.-83-26039A>T ENSP00000378734.2:n.-83-26039A>T
Search 100 bp 5'
Search 100 bp 3'