LDH info

Canonical Allele Identifier: CA128690
Gene: PROS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 29849
ClinVar RCV Id: RCV000022727
dbSNP Id: rs387906675

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93900830T>C , CM000665.2:g.93900830T>C GRCh38
NC_000003.11:g.93619674T>C , CM000665.1:g.93619674T>C GRCh37
NC_000003.10:g.95102364T>C NCBI36
NG_009813.1:g.78261A>G , LRG_572:g.78261A>G

Transcript Alleles

HGVS Amino-acid change
NM_000313.3:c.701A>G , LRG_572t1:c.701A>G NP_000304.2:p.Tyr234Cys
NM_001314077.1:c.797A>G , LRG_572t2:c.797A>G NP_001301006.1:p.Tyr266Cys
NM_000313.4:c.701A>G VV MANE Preferred NP_000304.2:p.Tyr234Cys
ENST00000394236.7:c.701A>G ENSP00000377783.3:p.Tyr234Cys
ENST00000407433.5:c.308A>G ENSP00000385794.1:p.Tyr103Cys