LDH info

Canonical Allele Identifier: CA18010122
Gene: NPPA HGNC NCBI
NPPA-AS1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs981805448

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846137del , CM000663.2:g.11846137del GRCh38
NC_000001.10:g.11906194del , CM000663.1:g.11906194del GRCh37
NC_000001.9:g.11828781del NCBI36
NG_012926.1:g.6651del , LRG_751:g.6651del

Transcript Alleles

HGVS Amino-acid change
NM_006172.3:c.451-119del , LRG_751t1:c.451-119del (NPPA) NP_006163.1:p.=
NR_037806.1:n.1479+371del (NPPA-AS1)
NM_006172.4:c.451-119del (NPPA) VV NP_006163.1:p.=
ENST00000376476.1:c.301-119del ENSP00000365659.1:p.=
ENST00000376480.7:c.451-119del ENSP00000365663.3:p.=
ENST00000610706.1:c.451-119del ENSP00000483195.1:p.=