Canonical Allele Identifier: CA2618489001
Gene: VDR HGNC NCBI

Linked Data

gnomAD v4: 12-47905023-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47905023G>T , CM000674.2:g.47905023G>T GRCh38
NC_000012.11:g.48298806G>T , CM000674.1:g.48298806G>T GRCh37
NC_000012.10:g.46585073G>T NCBI36
NG_008731.1:g.5009C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000229022.7:c.-274C>A ENSP00000229022.3:n.-274C>A
ENST00000395324.6:c.-83-22249C>A ENSP00000378734.2:n.-83-22249C>A
ENST00000548664.1:c.-274C>A ENSP00000450105.1:n.-274C>A
NM_000376.2:c.-152C>A NP_000367.1:n.-152C>A
NM_001017535.1:c.-274C>A NP_001017535.1:n.-274C>A
NM_001017536.1:c.-393C>A NP_001017536.1:n.-393C>A
XM_006719587.2:c.-71C>A XP_006719650.1:n.-71C>A
NM_001364085.1:c.-152C>A NP_001351014.1:n.-152C>A
XM_006719587.3:c.-71C>A XP_006719650.1:n.-71C>A
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