LDH info

Canonical Allele Identifier: CA333204
Gene: RAD50 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 141279
ClinVar RCV Id: RCV000129727

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132557418dup , CM000667.2:g.132557418dup GRCh38
NC_000005.9:g.131893110dup , CM000667.1:g.131893110dup GRCh37
NC_000005.8:g.131921009dup NCBI36
NG_021151.1:g.5495dup
NG_021151.2:g.5442dup

Transcript Alleles

HGVS Amino-acid change
NM_005732.3:c.94dup VV NP_005723.2:p.Thr32AsnfsTer16
NM_005732.4:c.94dup VV MANE Preferred NP_005723.2:p.Thr32AsnfsTer16
ENST00000378823.7:c.94dup ENSP00000368100.4:p.Thr32AsnfsTer16
ENST00000416135.5:c.-169+945dup ENSP00000389515.1:p.=
ENST00000423956.5:c.94dup ENSP00000390971.1:p.Thr32AsnfsTer16
ENST00000453394.5:c.94dup ENSP00000400049.1:p.Thr32AsnfsTer16
ENST00000533482.5:c.94dup ENSP00000431225.1:p.Thr32AsnfsTer16