LDH info

Canonical Allele Identifier: CA171147
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 157749
ClinVar RCV Id: RCV000145048
dbSNP Id: rs587783192

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004815del , CM000685.2:g.25004815del GRCh38
NC_000023.10:g.25022932del , CM000685.1:g.25022932del GRCh37
NC_000023.9:g.24932853del NCBI36
NG_008281.1:g.16132del

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.1542del VV NP_620689.1:p.Gly515AlafsTer18
NM_139058.3:c.1542del VV MANE Preferred NP_620689.1:p.Gly515AlafsTer18
ENST00000379044.4:c.1542del ENSP00000368332.4:p.Gly515AlafsTer18