LDH info

Canonical Allele Identifier: CA596983
Gene: NPPA HGNC NCBI
NPPA-AS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 226855
ClinVar RCV Id: RCV000220174
dbSNP Id: rs5065

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846011A>G , CM000663.2:g.11846011A>G GRCh38
NC_000001.10:g.11906068A>G , CM000663.1:g.11906068A>G GRCh37
NC_000001.9:g.11828655A>G NCBI36
NG_012926.1:g.6773T>C , LRG_751:g.6773T>C

Transcript Alleles

HGVS Amino-acid change
NM_006172.3:c.454T>C , LRG_751t1:c.454T>C (NPPA) NP_006163.1:p.Ter152Arg
NR_037806.1:n.1479+245A>G (NPPA-AS1)
NM_006172.4:c.454T>C (NPPA) VV NP_006163.1:p.Ter152Arg
ENST00000376476.1:c.304T>C ENSP00000365659.1:p.Ter102Arg
ENST00000376480.7:c.454T>C ENSP00000365663.3:p.Ter152Arg
ENST00000610706.1:c.453+1T>C ENSP00000483195.1:p.=