LDH info

Canonical Allele Identifier: CA254822
Gene: CNGA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9477
ClinVar RCV Id: RCV000010085
dbSNP Id: rs104893616

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396042C>G , CM000664.2:g.98396042C>G GRCh38
NC_000002.11:g.99012505C>G , CM000664.1:g.99012505C>G GRCh37
NC_000002.10:g.98378937C>G NCBI36
NG_009097.1:g.54888C>G

Transcript Alleles

HGVS Amino-acid change
NM_001079878.1:c.818C>G VV NP_001073347.1:p.Thr273Arg
NM_001298.2:c.872C>G VV NP_001289.1:p.Thr291Arg
XM_006712243.2:c.983C>G XP_006712306.1:p.Thr328Arg
XM_011510554.1:c.1037C>G XP_011508856.1:p.Thr346Arg
XM_011510554.2:c.1037C>G XP_011508856.1:p.Thr346Arg
NM_001079878.2:c.818C>G VV NP_001073347.1:p.Thr273Arg
NM_001298.3:c.872C>G VV MANE Preferred NP_001289.1:p.Thr291Arg
ENST00000272602.6:c.872C>G ENSP00000272602.2:p.Thr291Arg
ENST00000393504.5:c.872C>G ENSP00000377140.1:p.Thr291Arg
ENST00000409937.1:c.884C>G ENSP00000386761.1:p.Thr295Arg
ENST00000436404.6:c.818C>G ENSP00000410070.2:p.Thr273Arg