LDH info

Canonical Allele Identifier: CA597109
Gene: NPPA HGNC NCBI
NPPA-AS1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs5063

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847591C>T , CM000663.2:g.11847591C>T GRCh38
NC_000001.10:g.11907648C>T , CM000663.1:g.11907648C>T GRCh37
NC_000001.9:g.11830235C>T NCBI36
NG_012926.1:g.5193G>A , LRG_751:g.5193G>A

Transcript Alleles

HGVS Amino-acid change
NM_006172.3:c.94G>A , LRG_751t1:c.94G>A (NPPA) NP_006163.1:p.Val32Met
NR_037806.1:n.1637C>T (NPPA-AS1)
NM_006172.4:c.94G>A (NPPA) VV NP_006163.1:p.Val32Met
ENST00000376476.1:c.-27-152G>A ENSP00000365659.1:p.=
ENST00000376480.7:c.94G>A ENSP00000365663.3:p.Val32Met
ENST00000610706.1:c.94G>A ENSP00000483195.1:p.Val32Met