LDH info

Canonical Allele Identifier: CA204579
Gene: SLC12A3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 208612
dbSNP Id: rs138977195

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56887967G>A , CM000678.2:g.56887967G>A GRCh38
NC_000016.9:g.56921879G>A , CM000678.1:g.56921879G>A GRCh37
NC_000016.8:g.55479380G>A NCBI36
NG_009386.1:g.27761G>A
NG_009386.2:g.27761G>A

Transcript Alleles

HGVS Amino-acid change
NM_000339.2:c.2221G>A VV NP_000330.2:p.Gly741Arg
NM_001126107.1:c.2218G>A VV NP_001119579.1:p.Gly740Arg
NM_001126108.1:c.2221G>A VV NP_001119580.1:p.Gly741Arg
XM_005256119.1:c.2218G>A XP_005256176.1:p.Gly740Arg
XM_005256119.2:c.2218G>A XP_005256176.1:p.Gly740Arg
NM_000339.3:c.2221G>A VV NP_000330.3:p.Gly741Arg
NM_001126107.2:c.2218G>A VV NP_001119579.2:p.Gly740Arg
NM_001126108.2:c.2221G>A VV MANE Preferred NP_001119580.2:p.Gly741Arg
ENST00000262502.5:c.2218G>A ENSP00000262502.5:p.Gly740Arg
ENST00000438926.6:c.2221G>A ENSP00000402152.2:p.Gly741Arg
ENST00000563236.5:c.2221G>A ENSP00000456149.1:p.Gly741Arg
ENST00000566786.5:c.2218G>A ENSP00000457552.1:p.Gly740Arg