Canonical Allele Identifier: CA605231304
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs1409923126

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47844706A>C , CM000674.2:g.47844706A>C GRCh38
NC_000012.11:g.48238489A>C , CM000674.1:g.48238489A>C GRCh37
NC_000012.10:g.46524756A>C NCBI36
NG_008731.1:g.65326T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229022.9:c.1324T>G ENSP00000229022.5:p.Ser442Ala
ENST00000549336.6:c.*40T>G MANE Select ENSP00000449573.2:n.*40T>G
ENST00000229022.7:c.*40T>G ENSP00000229022.3:n.*40T>G
ENST00000395324.6:c.*40T>G ENSP00000378734.2:n.*40T>G
ENST00000547065.1:c.*1326T>G ENSP00000449074.1:n.*1326T>G
ENST00000549336.5:c.*40T>G ENSP00000449573.1:n.*40T>G
ENST00000550325.5:c.*40T>G ENSP00000447173.1:n.*40T>G
NM_000376.2:c.*40T>G NP_000367.1:n.*40T>G
NM_001017535.1:c.*40T>G NP_001017535.1:n.*40T>G
NM_001017536.1:c.*40T>G NP_001017536.1:n.*40T>G
XM_006719587.2:c.*40T>G XP_006719650.1:n.*40T>G
XM_011538720.1:c.*40T>G XP_011537022.1:n.*40T>G
NM_001364085.1:c.1324T>G NP_001351014.1:p.Ser442Ala
NM_000376.3:c.*40T>G MANE Select NP_000367.1:n.*40T>G
NM_001017535.2:c.*40T>G NP_001017535.1:n.*40T>G
NM_001017536.2:c.*40T>G NP_001017536.1:n.*40T>G
NM_001364085.2:c.1324T>G NP_001351014.1:p.Ser442Ala
NM_001374661.1:c.*40T>G NP_001361590.1:n.*40T>G
NM_001374662.1:c.*40T>G NP_001361591.1:n.*40T>G