LDH info

Canonical Allele Identifier: CA125285
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15418
dbSNP Id: rs63749819

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227002del , CM000673.2:g.5227002del GRCh38
NC_000011.9:g.5248232del , CM000673.1:g.5248232del GRCh37
NC_000011.8:g.5204808del NCBI36
NG_000007.3:g.70614del
NG_059281.1:g.5070del

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.20del VV NP_000509.1:p.Glu7GlyfsTer13
NM_000518.5:c.20del VV MANE Preferred NP_000509.1:p.Glu7GlyfsTer13
ENST00000335295.4:c.20del ENSP00000333994.3:p.Glu7GlyfsTer13
ENST00000380315.2:c.20del ENSP00000369671.2:p.Glu7GlyfsTer13
ENST00000485743.1:n.71del
ENST00000633227.1:c.20del ENSP00000488004.1:p.Glu7GlyfsTer13