LDH info

Canonical Allele Identifier: CA233440
Gene: ACTA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 166652
ClinVar RCV Id: RCV000592622
dbSNP Id: rs727503797

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432350C>A , CM000663.2:g.229432350C>A GRCh38
NC_000001.10:g.229568097C>A , CM000663.1:g.229568097C>A GRCh37
NC_000001.9:g.227634720C>A NCBI36
NG_006672.1:g.6747G>T , LRG_429:g.6747G>T

Transcript Alleles

HGVS Amino-acid change
NM_001100.3:c.536G>T , LRG_429t1:c.536G>T NP_001091.1:p.Arg179Leu
ENST00000366683.3:c.479+57G>T ENSP00000355644.3:p.=
ENST00000366684.7:c.536G>T ENSP00000355645.3:p.Arg179Leu