LDH info

Canonical Allele Identifier: CA125678
Gene: HBA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15701
ClinVar RCV Id: RCV000016993
dbSNP Id: rs34011123

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177397T>C , CM000678.2:g.177397T>C GRCh38
NC_000016.9:g.227396T>C , CM000678.1:g.227396T>C GRCh37
NC_000016.8:g.167396T>C NCBI36
NG_000006.1:g.38260T>C
NG_059186.1:g.5747T>C

Transcript Alleles

HGVS Amino-acid change
NM_000558.4:c.415T>C VV NP_000549.1:p.Ser139Pro
NM_000558.5:c.415T>C VV MANE Preferred NP_000549.1:p.Ser139Pro
ENST00000320868.9:c.415T>C ENSP00000322421.5:p.Ser139Pro
ENST00000397797.1:c.319T>C ENSP00000380899.1:p.Ser107Pro
ENST00000472694.1:n.551T>C