LDH info

Canonical Allele Identifier: CA342406
Gene: GNPTG HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21716
ClinVar RCV Id: RCV000020919
dbSNP Id: rs193302850

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362099_1362111del , CM000678.2:g.1362099_1362111del GRCh38
NC_000016.9:g.1412100_1412112del , CM000678.1:g.1412100_1412112del GRCh37
NC_000016.8:g.1352101_1352113del NCBI36
NG_016985.1:g.15201_15213del
NG_033129.1:g.57595_57607del

Transcript Alleles

HGVS Amino-acid change
NM_032520.4:c.379_391del VV NP_115909.1:p.Asp127ProfsTer?
XM_017023782.1:c.427_439del XP_016879271.1:p.Asp143ProfsTer?
XM_017023783.1:c.19_31del XP_016879272.1:p.Asp7ProfsTer?
NM_032520.5:c.379_391del VV MANE Preferred NP_115909.1:p.Asp127ProfsTer?
ENST00000204679.8:c.379_391del ENSP00000204679.4:p.Asp127ProfsTer?
ENST00000526820.5:c.*281_*293del ENSP00000434413.1:p.=
ENST00000527076.1:n.1395_1407del
ENST00000527168.5:n.415_427del
ENST00000529110.1:n.446_458del
ENST00000529957.5:n.478_490del