LDH info

Canonical Allele Identifier: CA338448406
Gene: NPPA HGNC NCBI
NPPA-AS1 HGNC NCBI

Identifiers and link-outs to other resources

COSMIC: COSM71873

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846014A>G , CM000663.2:g.11846014A>G GRCh38
NC_000001.10:g.11906071A>G , CM000663.1:g.11906071A>G GRCh37
NC_000001.9:g.11828658A>G NCBI36
NG_012926.1:g.6770T>C , LRG_751:g.6770T>C

Transcript Alleles

HGVS Amino-acid change
NM_006172.3:c.451T>C , LRG_751t1:c.451T>C (NPPA) NP_006163.1:p.Tyr151His
NR_037806.1:n.1479+248A>G (NPPA-AS1)
NM_006172.4:c.451T>C (NPPA) VV NP_006163.1:p.Tyr151His
ENST00000376476.1:c.301T>C ENSP00000365659.1:p.Tyr101His
ENST00000376480.7:c.451T>C ENSP00000365663.3:p.Tyr151His
ENST00000610706.1:c.451T>C ENSP00000483195.1:p.Tyr151His