LDH info

Canonical Allele Identifier: CA125153
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15345
ClinVar RCV Id: RCV000016588
dbSNP Id: rs63749858

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225611del , CM000673.2:g.5225611del GRCh38
NC_000011.9:g.5246841del , CM000673.1:g.5246841del GRCh37
NC_000011.8:g.5203417del NCBI36
NG_000007.3:g.72005del
NG_059281.1:g.6461del

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.431del VV NP_000509.1:p.His144ProfsTer15
NM_000518.5:c.431del VV MANE Preferred NP_000509.1:p.His144ProfsTer15
ENST00000335295.4:c.431del ENSP00000333994.3:p.His144ProfsTer15
ENST00000633227.1:c.*247del ENSP00000488004.1:p.=