LDH info

Canonical Allele Identifier: CA213171
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11197
ClinVar RCV Id: RCV000011948
dbSNP Id: rs104894741

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012967A>T , CM000685.2:g.25012967A>T GRCh38
NC_000023.10:g.25031084A>T , CM000685.1:g.25031084A>T GRCh37
NC_000023.9:g.24941005A>T NCBI36
NG_008281.1:g.7982T>A

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.1028T>A VV NP_620689.1:p.Leu343Gln
NM_139058.3:c.1028T>A VV MANE Preferred NP_620689.1:p.Leu343Gln
ENST00000379044.4:c.1028T>A ENSP00000368332.4:p.Leu343Gln