LDH info

Canonical Allele Identifier: CA121408
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11187
dbSNP Id: rs387906493

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013545_25013568dup , CM000685.2:g.25013545_25013568dup GRCh38
NC_000023.10:g.25031662_25031685dup , CM000685.1:g.25031662_25031685dup GRCh37
NC_000023.9:g.24941583_24941606dup NCBI36
NG_008281.1:g.7382_7405dup

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.428_451dup VV NP_620689.1:p.Ala150_Ala151insGlyAlaAlaAl...
NM_139058.3:c.428_451dup VV MANE Preferred NP_620689.1:p.Ala150_Ala151insGlyAlaAlaAl...
ENST00000379044.4:c.428_451dup ENSP00000368332.4:p.Ala150_Ala151insGlyAl...