LDH info

Canonical Allele Identifier: CA050959
Gene: TMEM43 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 217494
ClinVar RCV Id: RCV000201506
dbSNP Id: rs778127887

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141613C>T , CM000665.2:g.14141613C>T GRCh38
NC_000003.11:g.14183113C>T , CM000665.1:g.14183113C>T GRCh37
NC_000003.10:g.14158114C>T NCBI36
NG_008975.1:g.21674C>T , LRG_435:g.21674C>T

Transcript Alleles

HGVS Amino-acid change
NM_024334.2:c.1021C>T , LRG_435t1:c.1021C>T NP_077310.1:p.Arg341Ter
XM_011534109.1:c.916C>T XP_011532411.1:p.Arg306Ter
XM_017007176.2:c.916C>T XP_016862665.1:p.Arg306Ter
ENST00000306077.4:c.1021C>T ENSP00000303992.4:p.Arg341Ter
ENST00000601399.3:n.327+2316C>T
ENST00000608606.1:n.236+2316C>T