LDH info

Canonical Allele Identifier: CA125909
Gene: HBA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15825
ClinVar RCV Id: RCV000017168
dbSNP Id: rs34849179

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177401A>C , CM000678.2:g.177401A>C GRCh38
NC_000016.9:g.227400A>C , CM000678.1:g.227400A>C GRCh37
NC_000016.8:g.167400A>C NCBI36
NG_000006.1:g.38264A>C
NG_059186.1:g.5751A>C

Transcript Alleles

HGVS Amino-acid change
NM_000558.4:c.419A>C VV NP_000549.1:p.Lys140Thr
NM_000558.5:c.419A>C VV MANE Preferred NP_000549.1:p.Lys140Thr
ENST00000320868.9:c.419A>C ENSP00000322421.5:p.Lys140Thr
ENST00000397797.1:c.323A>C ENSP00000380899.1:p.Lys108Thr
ENST00000472694.1:n.555A>C