LDH info

Canonical Allele Identifier: CA16040800
Gene: DPYD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370307
ClinVar RCV Id: RCV000409426
dbSNP Id: rs1057516388

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97450101C>T , CM000663.2:g.97450101C>T GRCh38
NC_000001.10:g.97915657C>T , CM000663.1:g.97915657C>T GRCh37
NC_000001.9:g.97688245C>T NCBI36
NG_008807.2:g.475959G>A , LRG_722:g.475959G>A

Transcript Alleles

HGVS Amino-acid change
NM_000110.3:c.1863G>A , LRG_722t1:c.1863G>A NP_000101.2:p.Trp621Ter
XM_005270562.3:c.1647G>A XP_005270619.2:p.Trp549Ter
XM_006710397.2:c.1863G>A XP_006710460.1:p.Trp621Ter
XM_006710397.3:c.1863G>A XP_006710460.1:p.Trp621Ter
XM_017000507.1:c.1752G>A XP_016855996.1:p.Trp584Ter
XM_017000508.2:c.1368G>A XP_016855997.1:p.Trp456Ter
XM_017000509.2:c.1368G>A XP_016855998.1:p.Trp456Ter
XM_017000510.1:c.1368G>A XP_016855999.1:p.Trp456Ter
ENST00000370192.7:c.1863G>A ENSP00000359211.3:p.Trp621Ter