LDH info

Canonical Allele Identifier: CA165370
Gene: SLC30A8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 141421
ClinVar RCV Id: RCV000129930
dbSNP Id: rs200185429

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117153084C>T , CM000670.2:g.117153084C>T GRCh38
NC_000008.10:g.118165323C>T , CM000670.1:g.118165323C>T GRCh37
NC_000008.9:g.118234504C>T NCBI36
NG_016991.1:g.207812C>T

Transcript Alleles

HGVS Amino-acid change
NM_001172811.1:c.265C>T VV NP_001166282.1:p.Arg89Ter
NM_001172813.1:c.265C>T VV NP_001166284.1:p.Arg89Ter
NM_001172814.1:c.265C>T VV NP_001166285.1:p.Arg89Ter
NM_001172815.1:c.265C>T VV NP_001166286.1:p.Arg89Ter
NM_173851.2:c.412C>T VV NP_776250.2:p.Arg138Ter
XM_011516881.1:c.412C>T XP_011515183.1:p.Arg138Ter
XM_011516882.1:c.265C>T XP_011515184.1:p.Arg89Ter
XR_928569.1:n.1020+19531G>A
XR_928570.1:n.1020+19531G>A
NM_001172815.2:c.265C>T VV NP_001166286.1:p.Arg89Ter
XM_024447083.1:c.265C>T XP_024302851.1:p.Arg89Ter
XR_928569.2:n.973+19531G>A
XR_928570.2:n.973+19531G>A
ENST00000427715.2:c.265C>T ENSP00000407505.2:p.Arg89Ter
ENST00000456015.6:n.412C>T ENSP00000415011.2:p.Arg138Ter
ENST00000519688.5:c.265C>T ENSP00000431069.1:p.Arg89Ter
ENST00000521243.5:c.265C>T ENSP00000428545.1:p.Arg89Ter