LDH info

Canonical Allele Identifier: CA187609888
Gene: GPAA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 453247
ClinVar RCV Id: RCV000521887
dbSNP Id: rs1010907740

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144084471T>C , CM000670.2:g.144084471T>C GRCh38
NC_000008.10:g.145139374T>C , CM000670.1:g.145139374T>C GRCh37
NC_000008.9:g.145211362T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_003801.3:c.872T>C VV NP_003792.1:p.Leu291Pro
NM_003801.4:c.872T>C VV MANE Preferred NP_003792.1:p.Leu291Pro
ENST00000355091.8:c.872T>C ENSP00000347206.4:p.Leu291Pro
ENST00000361036.10:c.692T>C ENSP00000354316.6:p.Leu231Pro
ENST00000525087.5:c.656T>C ENSP00000434485.2:p.Leu219Pro
ENST00000526233.5:n.223T>C
ENST00000527144.5:n.555T>C
ENST00000527653.1:n.344T>C
ENST00000528073.5:c.*190T>C ENSP00000435119.1:p.=
ENST00000529638.1:n.199T>C
ENST00000530633.1:c.*319T>C ENSP00000431233.1:p.=