LDH info

Canonical Allele Identifier: CA596980
Gene: NPPA HGNC NCBI
NPPA-AS1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs780974291

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846002G>A , CM000663.2:g.11846002G>A GRCh38
NC_000001.10:g.11906059G>A , CM000663.1:g.11906059G>A GRCh37
NC_000001.9:g.11828646G>A NCBI36
NG_012926.1:g.6782C>T , LRG_751:g.6782C>T

Transcript Alleles

HGVS Amino-acid change
NM_006172.3:c.*7C>T , LRG_751t1:c.*7C>T (NPPA) NP_006163.1:p.=
NR_037806.1:n.1479+236G>A (NPPA-AS1)
NM_006172.4:c.*7C>T (NPPA) VV NP_006163.1:p.=
ENST00000376476.1:c.*7C>T ENSP00000365659.1:p.=
ENST00000376480.7:c.*7C>T ENSP00000365663.3:p.=
ENST00000610706.1:c.*1C>T