LDH info

Canonical Allele Identifier: CA10605871
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 287784
ClinVar RCV Id: RCV000272935
dbSNP Id: rs886043728

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013353_25013381del , CM000685.2:g.25013353_25013381del GRCh38
NC_000023.10:g.25031470_25031498del , CM000685.1:g.25031470_25031498del GRCh37
NC_000023.9:g.24941391_24941419del NCBI36
NG_008281.1:g.7562_7590del

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.608_636del VV NP_620689.1:p.Leu205ProfsTer23
NM_139058.3:c.608_636del VV MANE Preferred NP_620689.1:p.Leu205ProfsTer23
ENST00000379044.4:c.608_636del ENSP00000368332.4:p.Leu205ProfsTer23