Canonical Allele Identifier: CA2618489035
Gene: VDR HGNC NCBI

Linked Data

gnomAD v4: 12-47905042-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47905042G>A , CM000674.2:g.47905042G>A GRCh38
NC_000012.11:g.48298825G>A , CM000674.1:g.48298825G>A GRCh37
NC_000012.10:g.46585092G>A NCBI36
NG_008731.1:g.4990C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395324.6:c.-83-22268C>T ENSP00000378734.2:n.-83-22268C>T
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