LDH info

Canonical Allele Identifier: CA115543

Identifiers and link-outs to other resources

ClinVar Variation Id: 2428
ClinVar RCV Id: RCV000002530
dbSNP Id: rs104894604

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006584G>A , CM000679.2:g.44006584G>A GRCh38
NC_000017.10:g.42083952G>A , CM000679.1:g.42083952G>A GRCh37
NC_000017.9:g.39439478G>A NCBI36
NG_008106.1:g.6921G>A
NG_023338.1:g.2886C>T

Transcript Alleles

HGVS Amino-acid change
NM_153006.2:n.971G>A (NAGS) VV NP_694551.1:p.Trp324Ter
XM_011524438.1:c.971G>A (NAGS) XP_011522740.1:p.Trp324Ter
XM_011524439.1:c.473G>A (NAGS) XP_011522741.1:p.Trp158Ter
XM_011525035.1:c.-463+16988C>T (PYY) XP_011523337.1:p.=
XM_011524439.2:c.473G>A (NAGS) XP_011522741.1:p.Trp158Ter
NM_153006.3:c.971G>A (NAGS) VV NP_694551.1:p.Trp324Ter
ENST00000293404.7:c.971G>A ENSP00000293404.2:p.Trp324Ter
ENST00000589767.1:n.878G>A ENSP00000465408.1:p.Trp293Ter
ENST00000592915.1:n.246G>A