LDH info

Canonical Allele Identifier: CA121410
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11188
ClinVar RCV Id: RCV000011939
dbSNP Id: rs104894743

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012937G>A , CM000685.2:g.25012937G>A GRCh38
NC_000023.10:g.25031054G>A , CM000685.1:g.25031054G>A GRCh37
NC_000023.9:g.24940975G>A NCBI36
NG_008281.1:g.8012C>T

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.1058C>T VV NP_620689.1:p.Pro353Leu
NM_139058.3:c.1058C>T VV MANE Preferred NP_620689.1:p.Pro353Leu
ENST00000379044.4:c.1058C>T ENSP00000368332.4:p.Pro353Leu