LDH info

Canonical Allele Identifier: CA164772
Gene: RAD50 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 141208
ClinVar RCV Id: RCV000129612
dbSNP Id: rs587781576

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132579953C>T , CM000667.2:g.132579953C>T GRCh38
NC_000005.9:g.131915645C>T , CM000667.1:g.131915645C>T GRCh37
NC_000005.8:g.131943544C>T NCBI36
NG_021151.1:g.28030C>T
NG_021151.2:g.27977C>T

Transcript Alleles

HGVS Amino-acid change
NM_005732.3:c.643C>T VV NP_005723.2:p.Gln215Ter
NM_005732.4:c.643C>T VV MANE Preferred NP_005723.2:p.Gln215Ter
ENST00000378823.7:c.643C>T ENSP00000368100.4:p.Gln215Ter
ENST00000423956.5:c.643C>T ENSP00000390971.1:p.Gln215Ter
ENST00000453394.5:c.643C>T ENSP00000400049.1:p.Gln215Ter
ENST00000487596.1:n.209C>T
ENST00000533482.5:c.*269C>T ENSP00000431225.1:p.=