LDH info

Canonical Allele Identifier: CA16043267
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372305
ClinVar RCV Id: RCV000412797
dbSNP Id: rs1057517705

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004760_25004766dup , CM000685.2:g.25004760_25004766dup GRCh38
NC_000023.10:g.25022877_25022883dup , CM000685.1:g.25022877_25022883dup GRCh37
NC_000023.9:g.24932798_24932804dup NCBI36
NG_008281.1:g.16183_16189dup

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.1593_1599dup VV NP_620689.1:p.Ala534HisfsTer?
NM_139058.3:c.1593_1599dup VV MANE Preferred NP_620689.1:p.Ala534HisfsTer?
ENST00000379044.4:c.1593_1599dup ENSP00000368332.4:p.Ala534HisfsTer?