LDH info

Canonical Allele Identifier: CA125503
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15593
ClinVar RCV Id: RCV000016860
dbSNP Id: rs35198910

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226995C>G , CM000673.2:g.5226995C>G GRCh38
NC_000011.9:g.5248225C>G , CM000673.1:g.5248225C>G GRCh37
NC_000011.8:g.5204801C>G NCBI36
NG_000007.3:g.70621G>C
NG_059281.1:g.5077G>C

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.27G>C VV NP_000509.1:p.Lys9Asn
NM_000518.5:c.27G>C VV MANE Preferred NP_000509.1:p.Lys9Asn
ENST00000335295.4:c.27G>C ENSP00000333994.3:p.Lys9Asn
ENST00000380315.2:c.27G>C ENSP00000369671.2:p.Lys9Asn
ENST00000485743.1:n.78G>C
ENST00000633227.1:c.27G>C ENSP00000488004.1:p.Lys9Asn