LDH info

Canonical Allele Identifier: CA251551
Gene: F5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 649
ClinVar RCV Id: RCV000000683
dbSNP Id: rs118203907

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169530805T>C , CM000663.2:g.169530805T>C GRCh38
NC_000001.10:g.169500043T>C , CM000663.1:g.169500043T>C GRCh37
NC_000001.9:g.167766667T>C NCBI36
NG_011806.1:g.60727A>G , LRG_553:g.60727A>G

Transcript Alleles

HGVS Amino-acid change
NM_000130.4:c.5189A>G , LRG_553t1:c.5189A>G NP_000121.2:p.Tyr1730Cys
XM_017000660.2:c.4778A>G XP_016856149.1:p.Tyr1593Cys
NM_000130.5:c.5189A>G VV MANE Preferred NP_000121.2:p.Tyr1730Cys
ENST00000367796.3:c.5204A>G ENSP00000356770.3:p.Tyr1735Cys
ENST00000367797.7:c.5189A>G ENSP00000356771.3:p.Tyr1730Cys