LDH info

Canonical Allele Identifier: CA8069652
Gene: SLC12A3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 319909
dbSNP Id: rs147901432

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56885364G>A , CM000678.2:g.56885364G>A GRCh38
NC_000016.9:g.56919276G>A , CM000678.1:g.56919276G>A GRCh37
NC_000016.8:g.55476777G>A NCBI36
NG_009386.1:g.25158G>A
NG_009386.2:g.25158G>A

Transcript Alleles

HGVS Amino-acid change
NM_000339.2:c.1925G>A VV NP_000330.2:p.Arg642His
NM_001126107.1:c.1922G>A VV NP_001119579.1:p.Arg641His
NM_001126108.1:c.1925G>A VV NP_001119580.1:p.Arg642His
XM_005256119.1:c.1922G>A XP_005256176.1:p.Arg641His
XM_005256119.2:c.1922G>A XP_005256176.1:p.Arg641His
NM_000339.3:c.1925G>A VV NP_000330.3:p.Arg642His
NM_001126107.2:c.1922G>A VV NP_001119579.2:p.Arg641His
NM_001126108.2:c.1925G>A VV MANE Preferred NP_001119580.2:p.Arg642His
ENST00000262502.5:c.1922G>A ENSP00000262502.5:p.Arg641His
ENST00000438926.6:c.1925G>A ENSP00000402152.2:p.Arg642His
ENST00000563236.5:c.1925G>A ENSP00000456149.1:p.Arg642His
ENST00000566786.5:c.1922G>A ENSP00000457552.1:p.Arg641His