LDH info

Canonical Allele Identifier: CA340655
Gene: RPS24 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7245
ClinVar RCV Id: RCV000007667
dbSNP Id: rs104894188

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78037230C>T , CM000672.2:g.78037230C>T GRCh38
NC_000010.10:g.79796988C>T , CM000672.1:g.79796988C>T GRCh37
NC_000010.9:g.79466994C>T NCBI36
NG_012633.1:g.8471C>T

Transcript Alleles

HGVS Amino-acid change
NM_001026.4:c.316C>T VV NP_001017.1:p.Gln106Ter
NM_001142282.1:c.316C>T VV NP_001135754.1:p.Gln106Ter
NM_001142283.1:c.316C>T VV NP_001135755.1:p.Gln106Ter
NM_001142284.1:c.316C>T VV NP_001135756.1:p.Gln106Ter
NM_001142285.1:c.316C>T VV NP_001135757.1:p.Gln106Ter
NM_033022.3:c.316C>T VV NP_148982.1:p.Gln106Ter
XM_011540034.1:c.469C>T XP_011538336.1:p.Gln157Ter
XM_011540035.1:c.469C>T XP_011538337.1:p.Gln157Ter
XM_011540036.1:c.469C>T XP_011538338.1:p.Gln157Ter
XM_011540037.1:c.469C>T XP_011538339.1:p.Gln157Ter
XM_011540038.1:c.469C>T XP_011538340.1:p.Gln157Ter
NM_001142285.2:c.316C>T VV NP_001135757.1:p.Gln106Ter
NM_033022.4:c.316C>T VV MANE Preferred NP_148982.1:p.Gln106Ter
ENST00000360830.8:c.316C>T ENSP00000354074.4:p.Gln106Ter
ENST00000372360.7:c.316C>T ENSP00000361435.3:p.Gln106Ter
ENST00000435275.5:c.316C>T ENSP00000415549.1:p.Gln106Ter
ENST00000440692.5:c.316C>T ENSP00000414321.1:p.Gln106Ter
ENST00000464716.5:n.344C>T
ENST00000465692.1:n.313C>T
ENST00000476545.5:n.340C>T
ENST00000478655.5:n.355C>T
ENST00000482069.5:n.383C>T
ENST00000485708.6:n.374C>T
ENST00000613865.4:c.316C>T ENSP00000478869.1:p.Gln106Ter