LDH info

Canonical Allele Identifier: CA125741
Gene: HBA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15735
ClinVar RCV Id: RCV000017036
dbSNP Id: rs34879587

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177081C>A , CM000678.2:g.177081C>A GRCh38
NC_000016.9:g.227080C>A , CM000678.1:g.227080C>A GRCh37
NC_000016.8:g.167080C>A NCBI36
NG_000006.1:g.37944C>A
NG_059186.1:g.5431C>A

Transcript Alleles

HGVS Amino-acid change
NM_000558.4:c.248C>A VV NP_000549.1:p.Ala83Asp
NM_000558.5:c.248C>A VV MANE Preferred NP_000549.1:p.Ala83Asp
ENST00000320868.9:c.248C>A ENSP00000322421.5:p.Ala83Asp
ENST00000397797.1:c.152C>A ENSP00000380899.1:p.Ala51Asp
ENST00000472694.1:n.384C>A
ENST00000487791.1:n.217C>A