LDH info

Canonical Allele Identifier: CA168697
Gene: RAD50 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 142556
ClinVar RCV Id: RCV000131751
dbSNP Id: rs587782543

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132591963dup , CM000667.2:g.132591963dup GRCh38
NC_000005.9:g.131927655dup , CM000667.1:g.131927655dup GRCh37
NC_000005.8:g.131955554dup NCBI36
NG_021151.1:g.40040dup
NG_021151.2:g.39987dup

Transcript Alleles

HGVS Amino-acid change
NM_005732.3:c.1722dup VV NP_005723.2:p.Gln575ThrfsTer3
NM_005732.4:c.1722dup VV MANE Preferred NP_005723.2:p.Gln575ThrfsTer3
ENST00000378823.7:c.1722dup ENSP00000368100.4:p.Gln575ThrfsTer3
ENST00000423956.5:c.1635+557dup ENSP00000390971.1:p.=
ENST00000434288.1:n.217dup
ENST00000453394.5:c.1539dup ENSP00000400049.1:p.Gln514ThrfsTer3
ENST00000533482.5:c.*1348dup ENSP00000431225.1:p.=