LDH info

Canonical Allele Identifier: CA16043587
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373949
ClinVar RCV Id: RCV000415350
dbSNP Id: rs1057518794

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004777_25004780del , CM000685.2:g.25004777_25004780del GRCh38
NC_000023.10:g.25022894_25022897del , CM000685.1:g.25022894_25022897del GRCh37
NC_000023.9:g.24932815_24932818del NCBI36
NG_008281.1:g.16164_16167del

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.1574_1577del VV NP_620689.1:p.Arg527AlafsTer5
NM_139058.3:c.1574_1577del VV MANE Preferred NP_620689.1:p.Arg527AlafsTer5
ENST00000379044.4:c.1574_1577del ENSP00000368332.4:p.Arg527AlafsTer5