LDH info

Canonical Allele Identifier: CA115090
Gene: NLRP7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1592
ClinVar RCV Id: RCV000001659
dbSNP Id: rs104895548
MyVariant Identifiers: chr19:g.54939626A>C (hg38)

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54939626A>C , CM000681.2:g.54939626A>C GRCh38
NC_000019.8:g.60142806A>C NCBI36
NG_008056.1:g.12880T>G

Transcript Alleles

HGVS Amino-acid change
NM_001127255.1:c.1193T>G VV NP_001120727.1:p.Leu398Arg
NM_139176.3:c.1193T>G VV NP_631915.2:p.Leu398Arg
NM_206828.3:c.1193T>G VV NP_996611.2:p.Leu398Arg
XM_006723075.2:c.1193T>G XP_006723138.1:p.Leu398Arg
XM_006723076.2:c.1193T>G XP_006723139.1:p.Leu398Arg
XM_011526596.1:c.1277T>G XP_011524898.1:p.Leu426Arg
XM_011526597.1:c.1277T>G XP_011524899.1:p.Leu426Arg
XM_011526598.1:c.1277T>G XP_011524900.1:p.Leu426Arg
XM_011526599.1:c.1193T>G XP_011524901.1:p.Leu398Arg
XM_011526600.1:c.1193T>G XP_011524902.1:p.Leu398Arg
XM_011526601.1:c.1277T>G XP_011524903.1:p.Leu426Arg
XR_935761.1:n.1711T>G
XM_006723075.3:c.1193T>G XP_006723138.1:p.Leu398Arg
XM_006723076.3:c.1193T>G XP_006723139.1:p.Leu398Arg
XM_011526596.2:c.1277T>G XP_011524898.1:p.Leu426Arg
XM_011526599.2:c.1193T>G XP_011524901.1:p.Leu398Arg
XM_011526601.2:c.1277T>G XP_011524903.1:p.Leu426Arg
ENST00000328092.9:c.1193T>G ENSP00000329568.5:p.Leu398Arg
ENST00000340844.6:c.1193T>G ENSP00000339491.2:p.Leu398Arg
ENST00000586379.5:c.1193T>G ENSP00000468243.1:p.Leu398Arg
ENST00000588756.5:c.1193T>G ENSP00000467123.1:p.Leu398Arg
ENST00000590030.5:c.1193T>G ENSP00000465520.1:p.Leu398Arg
ENST00000592784.5:c.1193T>G ENSP00000468706.1:p.Leu398Arg