LDH info

Canonical Allele Identifier: CA214186
Gene: NPPA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36663
dbSNP Id: rs5064

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847546G>A , CM000663.2:g.11847546G>A GRCh38
NC_000001.10:g.11907603G>A , CM000663.1:g.11907603G>A GRCh37
NC_000001.9:g.11830190G>A NCBI36
NG_012926.1:g.5238C>T , LRG_751:g.5238C>T

Transcript Alleles

HGVS Amino-acid change
NM_006172.3:c.123+16C>T , LRG_751t1:c.123+16C>T NP_006163.1:p.=
NR_037806.1:n.1592G>A
ENST00000376476.1:c.-27-107C>T ENSP00000365659.1:p.=
ENST00000376480.7:c.123+16C>T ENSP00000365663.3:p.=
ENST00000610706.1:c.123+16C>T ENSP00000483195.1:p.=