LDH info

Canonical Allele Identifier: CA16041807
Gene: ALDH3A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370301
ClinVar RCV Id: RCV000409110
dbSNP Id: rs1057516386

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19651624del , CM000679.2:g.19651624del GRCh38
NC_000017.10:g.19554937del , CM000679.1:g.19554937del GRCh37
NC_000017.9:g.19495529del NCBI36
NG_007095.2:g.7874del

Transcript Alleles

HGVS Amino-acid change
NM_000382.2:c.231del VV NP_000373.1:p.Glu77AspfsTer30
NM_001031806.1:c.231del VV NP_001026976.1:p.Glu77AspfsTer30
XM_011523732.1:c.231del XP_011522034.1:p.Glu77AspfsTer30
XM_011523733.1:c.231del XP_011522035.1:p.Glu77AspfsTer30
XM_011523733.2:c.231del XP_011522035.1:p.Glu77AspfsTer30
XM_017024355.1:c.231del XP_016879844.1:p.Glu77AspfsTer30
XM_017024356.2:c.231del XP_016879845.1:p.Glu77AspfsTer30
XM_017024357.1:c.231del XP_016879846.1:p.Glu77AspfsTer30
XM_017024358.2:c.231del XP_016879847.1:p.Glu77AspfsTer30
XM_024450651.1:c.-458del XP_024306419.1:p.=
XM_024450652.1:c.-458del XP_024306420.1:p.=
NM_000382.3:c.231del VV NP_000373.1:p.Glu77AspfsTer30
NM_001031806.2:c.231del VV NP_001026976.1:p.Glu77AspfsTer30
NM_001369136.1:c.231del VV NP_001356065.1:p.Glu77AspfsTer30
NM_001369137.1:c.231del VV NP_001356066.1:p.Glu77AspfsTer30
NM_001369138.1:c.231del VV NP_001356067.1:p.Glu77AspfsTer30
NM_001369139.1:c.231del VV NP_001356068.1:p.Glu77AspfsTer30
NM_001369146.1:c.231del VV NP_001356075.1:p.Glu77AspfsTer30
NM_001369148.1:c.-458del VV NP_001356077.1:p.=
ENST00000176643.10:c.231del ENSP00000176643.6:p.Glu77AspfsTer30
ENST00000339618.8:c.231del ENSP00000345774.4:p.Glu77AspfsTer30
ENST00000395575.6:c.231del ENSP00000378942.2:p.Glu77AspfsTer30
ENST00000446398.6:c.231del ENSP00000395845.2:p.Glu77AspfsTer30
ENST00000467473.5:n.388del
ENST00000472059.5:c.231del ENSP00000458397.1:p.Glu77AspfsTer30
ENST00000578614.1:c.154-923del ENSP00000463128.1:p.=
ENST00000579403.1:n.277del
ENST00000579855.5:c.231del ENSP00000463637.1:p.Glu77AspfsTer30
ENST00000580550.5:c.231del ENSP00000462964.1:p.Glu77AspfsTer30
ENST00000581518.5:c.231del ENSP00000461916.1:p.Glu77AspfsTer30
ENST00000582991.5:c.231del ENSP00000464153.1:p.Glu77AspfsTer30
ENST00000584332.6:c.135del ENSP00000466814.1:p.Glu45AspfsTer30
ENST00000626500.2:c.231del ENSP00000486283.1:p.Glu77AspfsTer30
ENST00000630662.2:c.-751del ENSP00000487353.1:p.=
ENST00000631291.2:c.231del ENSP00000486085.1:p.Glu77AspfsTer30