LDH info

Canonical Allele Identifier: CA024638
Gene: TMEM43 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 40870
ClinVar RCV Id: RCV000033854
dbSNP Id: rs397514044

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130912G>A , CM000665.2:g.14130912G>A GRCh38
NC_000003.11:g.14172412G>A , CM000665.1:g.14172412G>A GRCh37
NC_000003.10:g.14147413G>A NCBI36
NG_008975.1:g.10973G>A , LRG_435:g.10973G>A

Transcript Alleles

HGVS Amino-acid change
NM_024334.2:c.253G>A , LRG_435t1:c.253G>A NP_077310.1:p.Glu85Lys
XM_011534109.1:c.148G>A XP_011532411.1:p.Glu50Lys
XM_017007176.2:c.148G>A XP_016862665.1:p.Glu50Lys
ENST00000306077.4:c.253G>A ENSP00000303992.4:p.Glu85Lys
ENST00000432444.1:c.*283G>A ENSP00000395617.1:p.=