LDH info

Canonical Allele Identifier: CA10605649
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 287023
dbSNP Id: rs886043552

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013205del , CM000685.2:g.25013205del GRCh38
NC_000023.10:g.25031322del , CM000685.1:g.25031322del GRCh37
NC_000023.9:g.24941243del NCBI36
NG_008281.1:g.7741del

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.787del VV NP_620689.1:p.Arg264GlyfsTer?
NM_139058.3:c.787del VV MANE Preferred NP_620689.1:p.Arg264GlyfsTer?
ENST00000379044.4:c.787del ENSP00000368332.4:p.Arg264GlyfsTer?