LDH info

Canonical Allele Identifier: CA16041886
Gene: GAA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370577
dbSNP Id: rs1057516600

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80107816A>G , CM000679.2:g.80107816A>G GRCh38
NC_000017.10:g.78081615A>G , CM000679.1:g.78081615A>G GRCh37
NC_000017.9:g.75696210A>G NCBI36
NG_009822.1:g.11261A>G , LRG_673:g.11261A>G

Transcript Alleles

HGVS Amino-acid change
NM_000152.3:c.875A>G , LRG_673t1:c.875A>G NP_000143.2:p.Tyr292Cys
NM_001079803.1:c.875A>G VV NP_001073271.1:p.Tyr292Cys
NM_001079804.1:c.875A>G VV NP_001073272.1:p.Tyr292Cys
XM_005257193.1:c.875A>G XP_005257250.1:p.Tyr292Cys
XM_005257194.3:c.875A>G XP_005257251.1:p.Tyr292Cys
NM_000152.4:c.875A>G VV NP_000143.2:p.Tyr292Cys
NM_001079803.2:c.875A>G VV NP_001073271.1:p.Tyr292Cys
NM_001079804.2:c.875A>G VV NP_001073272.1:p.Tyr292Cys
XM_005257193.2:c.875A>G XP_005257250.1:p.Tyr292Cys
XM_005257194.4:c.875A>G XP_005257251.1:p.Tyr292Cys
NM_000152.5:c.875A>G VV MANE Preferred NP_000143.2:p.Tyr292Cys
NM_001079803.3:c.875A>G VV NP_001073271.1:p.Tyr292Cys
NM_001079804.3:c.875A>G VV NP_001073272.1:p.Tyr292Cys
ENST00000302262.7:c.875A>G ENSP00000305692.3:p.Tyr292Cys
ENST00000390015.7:c.875A>G ENSP00000374665.3:p.Tyr292Cys