LDH info

Canonical Allele Identifier: CA125350
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15490
ClinVar RCV Id: RCV000016750
dbSNP Id: rs34037627

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226728A>T , CM000673.2:g.5226728A>T GRCh38
NC_000011.9:g.5247958A>T , CM000673.1:g.5247958A>T GRCh37
NC_000011.8:g.5204534A>T NCBI36
NG_000007.3:g.70888T>A
NG_059281.1:g.5344T>A

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.164T>A VV NP_000509.1:p.Val55Asp
NM_000518.5:c.164T>A VV MANE Preferred NP_000509.1:p.Val55Asp
ENST00000335295.4:c.164T>A ENSP00000333994.3:p.Val55Asp
ENST00000380315.2:c.164T>A ENSP00000369671.2:p.Val55Asp
ENST00000475226.1:n.96T>A
ENST00000485743.1:n.215T>A
ENST00000633227.1:c.148T>A ENSP00000488004.1:p.Leu50Ile