LDH info

Canonical Allele Identifier: CA119044
Gene: VDR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7759
ClinVar RCV Id: RCV000008200
dbSNP Id: rs267607169

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47844994C>T , CM000674.2:g.47844994C>T GRCh38
NC_000012.11:g.48238777C>T , CM000674.1:g.48238777C>T GRCh37
NC_000012.10:g.46525044C>T NCBI36
NG_008731.1:g.65038G>A

Transcript Alleles

HGVS Amino-acid change
NM_000376.2:c.1036G>A VV NP_000367.1:p.Val346Met
NM_001017535.1:c.1036G>A VV NP_001017535.1:p.Val346Met
NM_001017536.1:c.1186G>A VV NP_001017536.1:p.Val396Met
XM_006719587.2:c.1036G>A XP_006719650.1:p.Val346Met
XM_011538720.1:c.1036G>A XP_011537022.1:p.Val346Met
NM_001364085.1:c.1036G>A VV NP_001351014.1:p.Val346Met
XM_006719587.3:c.1036G>A XP_006719650.1:p.Val346Met
XM_011538720.2:c.1036G>A XP_011537022.1:p.Val346Met
XM_024449178.1:c.1105G>A XP_024304946.1:p.Val369Met
NM_000376.3:c.1036G>A VV MANE Preferred NP_000367.1:p.Val346Met
NM_001017535.2:c.1036G>A VV NP_001017535.1:p.Val346Met
NM_001017536.2:c.1186G>A VV NP_001017536.1:p.Val396Met
NM_001364085.2:c.1036G>A VV NP_001351014.1:p.Val346Met
NM_001374661.1:c.1036G>A VV NP_001361590.1:p.Val346Met
NM_001374662.1:c.1036G>A VV NP_001361591.1:p.Val346Met
ENST00000229022.7:c.1036G>A ENSP00000229022.3:p.Val346Met
ENST00000395324.6:c.1036G>A ENSP00000378734.2:p.Val346Met
ENST00000547065.1:c.*1038G>A ENSP00000449074.1:p.=
ENST00000549336.5:c.1036G>A ENSP00000449573.1:p.Val346Met
ENST00000550325.5:c.1186G>A ENSP00000447173.1:p.Val396Met