LDH info

Canonical Allele Identifier: CA211163
Gene: LRPPRC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 218169
ClinVar RCV Id: RCV000202391
dbSNP Id: rs769022521

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918033dup , CM000664.2:g.43918033dup GRCh38
NC_000002.11:g.44145172dup , CM000664.1:g.44145172dup GRCh37
NC_000002.10:g.43998676dup NCBI36
NG_008247.1:g.82980dup

Transcript Alleles

HGVS Amino-acid change
NM_133259.3:c.3147dup VV NP_573566.2:p.Gly1050ArgfsTer4
XM_006711915.2:c.3069dup XP_006711978.1:p.Gly1024ArgfsTer4
XM_006711916.2:c.3147dup XP_006711979.1:p.Arg1050LysfsTer8
XM_011532473.1:c.3147dup XP_011530775.1:p.Gly1050ArgfsTer4
XM_011532474.1:c.3147dup XP_011530776.1:p.Gly1050ArgfsTer4
XM_006711916.3:c.3147dup XP_006711979.1:p.Arg1050LysfsTer8
XM_017003117.1:c.3069dup XP_016858606.1:p.Gly1024ArgfsTer4
XR_002958896.1:n.3189dup
NM_133259.4:c.3147dup VV MANE Preferred NP_573566.2:p.Gly1050ArgfsTer4
ENST00000260665.11:c.3147dup ENSP00000260665.7:p.Gly1050ArgfsTer4