LDH info

Canonical Allele Identifier: CA596981
Gene: NPPA HGNC NCBI
NPPA-AS1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs750164277

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846006T>C , CM000663.2:g.11846006T>C GRCh38
NC_000001.10:g.11906063T>C , CM000663.1:g.11906063T>C GRCh37
NC_000001.9:g.11828650T>C NCBI36
NG_012926.1:g.6778A>G , LRG_751:g.6778A>G

Transcript Alleles

HGVS Amino-acid change
NM_006172.3:c.*3A>G , LRG_751t1:c.*3A>G (NPPA)
NR_037806.1:n.1479+240T>C (NPPA-AS1)
NM_006172.4:c.*3A>G (NPPA) VV
ENST00000376476.1:c.*3A>G
ENST00000376480.7:c.*3A>G
ENST00000610706.1:c.456A>G ENSP00000483195.1:p.Arg152=