LDH info

Canonical Allele Identifier: CA117273
Gene: AICDA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5125
ClinVar RCV Id: RCV000005432
dbSNP Id: rs104894321

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8605325A>G , CM000674.2:g.8605325A>G GRCh38
NC_000012.11:g.8757921A>G , CM000674.1:g.8757921A>G GRCh37
NC_000012.10:g.8649188A>G NCBI36
NG_011588.1:g.12522T>C , LRG_17:g.12522T>C

Transcript Alleles

HGVS Amino-acid change
NM_020661.2:c.317T>C , LRG_17t1:c.317T>C NP_065712.1:p.Leu106Pro
XM_011520772.1:c.317T>C XP_011519074.1:p.Leu106Pro
XM_011520773.1:c.317T>C XP_011519075.1:p.Leu106Pro
NM_001330343.1:c.317T>C VV NP_001317272.1:p.Leu106Pro
NM_020661.3:c.317T>C VV NP_065712.1:p.Leu106Pro
XM_011520773.2:c.317T>C XP_011519075.1:p.Leu106Pro
NM_020661.4:c.317T>C VV MANE Preferred NP_065712.1:p.Leu106Pro
NM_001330343.2:c.317T>C VV NP_001317272.1:p.Leu106Pro
ENST00000229335.10:c.317T>C ENSP00000229335.6:p.Leu106Pro
ENST00000537228.5:c.317T>C ENSP00000445691.1:p.Leu106Pro
ENST00000543081.5:n.313T>C
ENST00000544516.5:n.153-988T>C
ENST00000545512.1:n.313T>C
ENST00000545576.1:n.351T>C