LDH info

Canonical Allele Identifier: CA8061741
Gene: SLC6A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 319805
ClinVar RCV Id: RCV000358821
dbSNP Id: rs998424

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55698034G>A , CM000678.2:g.55698034G>A GRCh38
NC_000016.9:g.55731946G>A , CM000678.1:g.55731946G>A GRCh37
NC_000016.8:g.54289447G>A NCBI36
NG_016969.1:g.47405G>A

Transcript Alleles

HGVS Amino-acid change
NM_001043.3:c.1389+9G>A VV NP_001034.1:p.=
NM_001172501.1:c.1389+9G>A VV NP_001165972.1:p.=
NM_001172502.1:c.1074+9G>A VV NP_001165973.1:p.=
NM_001172504.1:c.1389+9G>A VV NP_001165975.1:p.=
XM_006721263.2:c.1389+9G>A XP_006721326.1:p.=
XM_011523295.1:c.1389+9G>A XP_011521597.1:p.=
XM_011523296.1:c.1254+9G>A XP_011521598.1:p.=
XM_011523297.1:c.1254+9G>A XP_011521599.1:p.=
XM_011523299.1:c.666+9G>A XP_011521601.1:p.=
XM_011523300.1:c.666+9G>A XP_011521602.1:p.=
XR_933403.1:n.2006+9G>A
XM_011523295.2:c.1389+9G>A XP_011521597.1:p.=
XM_011523296.2:c.1254+9G>A XP_011521598.1:p.=
XM_011523297.3:c.1254+9G>A XP_011521599.1:p.=
XM_011523299.2:c.666+9G>A XP_011521601.1:p.=
XM_011523300.2:c.666+9G>A XP_011521602.1:p.=
XR_933403.3:n.1682+9G>A
ENST00000219833.12:c.1389+9G>A ENSP00000219833.8:p.=
ENST00000379906.6:c.1389+9G>A ENSP00000369237.2:p.=
ENST00000414754.7:c.1389+9G>A ENSP00000394956.3:p.=
ENST00000561820.5:c.1389+9G>A ENSP00000454439.1:p.=
ENST00000566163.5:c.1254+9G>A ENSP00000456210.1:p.=
ENST00000567238.1:c.1074+9G>A ENSP00000457375.1:p.=
ENST00000568943.5:c.1389+9G>A ENSP00000457473.1:p.=