LDH info

Canonical Allele Identifier: CA117823
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5873
ClinVar RCV Id: RCV000006231
dbSNP Id: rs121912629

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642364A>T , CM000667.2:g.132642364A>T GRCh38
NC_000005.9:g.131978056A>T , CM000667.1:g.131978056A>T GRCh37
NC_000005.8:g.132005955A>T NCBI36
NG_021151.1:g.90441A>T
NG_021151.2:g.90388A>T

Transcript Alleles

HGVS Amino-acid change
NM_005732.3:c.3939A>T (RAD50) VV NP_005723.2:p.Ter1313Tyr
NR_132125.1:n.105-82T>A (TH2LCRR)
NR_132126.1:n.175-4099T>A (TH2LCRR)
NM_005732.4:c.3939A>T (RAD50) VV NP_005723.2:p.Ter1313Tyr
ENST00000378823.7:c.3939A>T ENSP00000368100.4:p.Ter1313Tyr
ENST00000455677.1:n.388-641A>T
ENST00000533482.5:c.*3565A>T ENSP00000431225.1:p.=