LDH info

Canonical Allele Identifier: CA115289
Gene: ADA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1973
dbSNP Id: rs73598374

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651586C>T , CM000682.2:g.44651586C>T GRCh38
NC_000020.10:g.43280227C>T , CM000682.1:g.43280227C>T GRCh37
NC_000020.9:g.42713641C>T NCBI36
NG_007385.1:g.5150G>A , LRG_16:g.5150G>A

Transcript Alleles

HGVS Amino-acid change
NM_000022.2:c.22G>A , LRG_16t1:c.22G>A NP_000013.2:p.Asp8Asn
XM_005260236.2:c.22G>A XP_005260293.1:p.Asp8Asn
XM_011528478.1:c.-268G>A XP_011526780.1:p.=
XM_011528479.1:c.-257+316G>A XP_011526781.1:p.=
XR_244129.1:n.76G>A
NM_000022.3:c.22G>A VV NP_000013.2:p.Asp8Asn
NM_001322050.1:c.-268G>A VV NP_001308979.1:p.=
NM_001322051.1:c.22G>A VV NP_001308980.1:p.Asp8Asn
NR_136160.1:n.173G>A
NM_000022.4:c.22G>A VV MANE Preferred NP_000013.2:p.Asp8Asn
ENST00000372874.8:c.22G>A ENSP00000361965.4:p.Asp8Asn
ENST00000492931.5:n.106G>A
ENST00000535573.1:n.332+316G>A
ENST00000536076.1:n.213+316G>A
ENST00000536532.5:c.22G>A ENSP00000440946.1:p.Asp8Asn
ENST00000537820.1:c.22G>A ENSP00000441818.1:p.Asp8Asn
ENST00000539235.5:c.22G>A ENSP00000446464.1:p.Asp8Asn
ENST00000545776.5:n.76G>A