LDH info

Canonical Allele Identifier: CA8815181
Gene: GAA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370263

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108556del , CM000679.2:g.80108556del GRCh38
NC_000017.10:g.78082355del , CM000679.1:g.78082355del GRCh37
NC_000017.9:g.75696950del NCBI36
NG_009822.1:g.12001del , LRG_673:g.12001del

Transcript Alleles

HGVS Amino-acid change
NM_000152.3:c.1143del , LRG_673t1:c.1143del NP_000143.2:p.Ala382LeufsTer10
NM_001079803.1:c.1143del VV NP_001073271.1:p.Ala382LeufsTer10
NM_001079804.1:c.1143del VV NP_001073272.1:p.Ala382LeufsTer10
XM_005257193.1:c.1143del XP_005257250.1:p.Ala382LeufsTer10
XM_005257194.3:c.1143del XP_005257251.1:p.Ala382LeufsTer10
NM_000152.4:c.1143del VV NP_000143.2:p.Ala382LeufsTer10
NM_001079803.2:c.1143del VV NP_001073271.1:p.Ala382LeufsTer10
NM_001079804.2:c.1143del VV NP_001073272.1:p.Ala382LeufsTer10
XM_005257193.2:c.1143del XP_005257250.1:p.Ala382LeufsTer10
XM_005257194.4:c.1143del XP_005257251.1:p.Ala382LeufsTer10
NM_000152.5:c.1143del VV MANE Preferred NP_000143.2:p.Ala382LeufsTer10
NM_001079803.3:c.1143del VV NP_001073271.1:p.Ala382LeufsTer10
NM_001079804.3:c.1143del VV NP_001073272.1:p.Ala382LeufsTer10
ENST00000302262.7:c.1143del ENSP00000305692.3:p.Ala382LeufsTer10
ENST00000390015.7:c.1143del ENSP00000374665.3:p.Ala382LeufsTer10