LDH info

Canonical Allele Identifier: CA213329
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 210319
ClinVar RCV Id: RCV000193341
dbSNP Id: rs797045291

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007223dup , CM000685.2:g.25007223dup GRCh38
NC_000023.10:g.25025340dup , CM000685.1:g.25025340dup GRCh37
NC_000023.9:g.24935261dup NCBI36
NG_008281.1:g.13727dup

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.1337dup VV NP_620689.1:p.Pro447AlafsTer?
NM_139058.3:c.1337dup VV MANE Preferred NP_620689.1:p.Pro447AlafsTer?
ENST00000379044.4:c.1337dup ENSP00000368332.4:p.Pro447AlafsTer?