LDH info

Canonical Allele Identifier: CA8069667
Gene: SLC12A3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 417863
dbSNP Id: rs140012781

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56886366C>T , CM000678.2:g.56886366C>T GRCh38
NC_000016.9:g.56920278C>T , CM000678.1:g.56920278C>T GRCh37
NC_000016.8:g.55477779C>T NCBI36
NG_009386.1:g.26160C>T
NG_009386.2:g.26160C>T

Transcript Alleles

HGVS Amino-acid change
NM_000339.2:c.1928C>T VV NP_000330.2:p.Pro643Leu
NM_001126107.1:c.1925C>T VV NP_001119579.1:p.Pro642Leu
NM_001126108.1:c.1928C>T VV NP_001119580.1:p.Pro643Leu
XM_005256119.1:c.1925C>T XP_005256176.1:p.Pro642Leu
XM_005256119.2:c.1925C>T XP_005256176.1:p.Pro642Leu
NM_000339.3:c.1928C>T VV NP_000330.3:p.Pro643Leu
NM_001126107.2:c.1925C>T VV NP_001119579.2:p.Pro642Leu
NM_001126108.2:c.1928C>T VV MANE Preferred NP_001119580.2:p.Pro643Leu
ENST00000262502.5:c.1925C>T ENSP00000262502.5:p.Pro642Leu
ENST00000438926.6:c.1928C>T ENSP00000402152.2:p.Pro643Leu
ENST00000563236.5:c.1928C>T ENSP00000456149.1:p.Pro643Leu
ENST00000566786.5:c.1925C>T ENSP00000457552.1:p.Pro642Leu