LDH info

Canonical Allele Identifier: CA151258
Gene: NPPA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 126847
dbSNP Id: rs61757261

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847373T>G , CM000663.2:g.11847373T>G GRCh38
NC_000001.10:g.11907430T>G , CM000663.1:g.11907430T>G GRCh37
NC_000001.9:g.11830017T>G NCBI36
NG_012926.1:g.5411A>C , LRG_751:g.5411A>C

Transcript Alleles

HGVS Amino-acid change
NM_006172.3:c.190A>C , LRG_751t1:c.190A>C NP_006163.1:p.Ser64Arg
NR_037806.1:n.1480-61T>G
ENST00000376476.1:c.40A>C ENSP00000365659.1:p.Ser14Arg
ENST00000376480.7:c.190A>C ENSP00000365663.3:p.Ser64Arg
ENST00000610706.1:c.190A>C ENSP00000483195.1:p.Ser64Arg