LDH info

Canonical Allele Identifier: CA125955
Gene: HBA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15852
ClinVar RCV Id: RCV000017197
dbSNP Id: rs35166834

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177380T>G , CM000678.2:g.177380T>G GRCh38
NC_000016.9:g.227379T>G , CM000678.1:g.227379T>G GRCh37
NC_000016.8:g.167379T>G NCBI36
NG_000006.1:g.38243T>G
NG_059186.1:g.5730T>G

Transcript Alleles

HGVS Amino-acid change
NM_000558.4:c.398T>G VV NP_000549.1:p.Val133Gly
NM_000558.5:c.398T>G VV MANE Preferred NP_000549.1:p.Val133Gly
ENST00000320868.9:c.398T>G ENSP00000322421.5:p.Val133Gly
ENST00000397797.1:c.302T>G ENSP00000380899.1:p.Val101Gly
ENST00000472694.1:n.534T>G