LDH info

Canonical Allele Identifier: CA10575963
Gene: ACTA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 224672
ClinVar RCV Id: RCV000228987
dbSNP Id: rs878854374

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431788T>C , CM000663.2:g.229431788T>C GRCh38
NC_000001.10:g.229567535T>C , CM000663.1:g.229567535T>C GRCh37
NC_000001.9:g.227634158T>C NCBI36
NG_006672.1:g.7309A>G , LRG_429:g.7309A>G

Transcript Alleles

HGVS Amino-acid change
NM_001100.3:c.923A>G , LRG_429t1:c.923A>G NP_001091.1:p.Tyr308Cys
ENST00000366683.3:c.554A>G ENSP00000355644.3:p.Tyr185Cys
ENST00000366684.7:c.923A>G ENSP00000355645.3:p.Tyr308Cys