LDH info

Canonical Allele Identifier: CA258138
Gene: ACTA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18284
ClinVar RCV Id: RCV000019946
dbSNP Id: rs121909524

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431558T>G , CM000663.2:g.229431558T>G GRCh38
NC_000001.10:g.229567305T>G , CM000663.1:g.229567305T>G GRCh37
NC_000001.9:g.227633928T>G NCBI36
NG_006672.1:g.7539A>C , LRG_429:g.7539A>C

Transcript Alleles

HGVS Amino-acid change
NM_001100.3:c.1075A>C , LRG_429t1:c.1075A>C NP_001091.1:p.Ile359Leu
ENST00000366683.3:c.706A>C ENSP00000355644.3:p.Ile236Leu
ENST00000366684.7:c.1075A>C ENSP00000355645.3:p.Ile359Leu