LDH info

Canonical Allele Identifier: CA125470
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15573
ClinVar RCV Id: RCV000016840
dbSNP Id: rs34407387

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225623T>G , CM000673.2:g.5225623T>G GRCh38
NC_000011.9:g.5246853T>G , CM000673.1:g.5246853T>G GRCh37
NC_000011.8:g.5203429T>G NCBI36
NG_000007.3:g.71993A>C
NG_059281.1:g.6449A>C

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.419A>C VV NP_000509.1:p.Asn140Thr
NM_000518.5:c.419A>C VV MANE Preferred NP_000509.1:p.Asn140Thr
ENST00000335295.4:c.419A>C ENSP00000333994.3:p.Asn140Thr
ENST00000633227.1:c.*235A>C ENSP00000488004.1:p.=