LDH info

Canonical Allele Identifier: CA341434
Gene: CRYAB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16953
ClinVar RCV Id: RCV000018465
dbSNP Id: rs104894201

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111908934T>C , CM000673.2:g.111908934T>C GRCh38
NC_000011.9:g.111779658T>C , CM000673.1:g.111779658T>C GRCh37
NC_000011.8:g.111284868T>C NCBI36
NG_009824.2:g.19789A>G
NG_033080.1:g.1199T>C
NG_009824.3:g.19789A>G
NG_033080.2:g.1199T>C

Transcript Alleles

HGVS Amino-acid change
NM_001289807.1:c.358A>G VV NP_001276736.1:p.Arg120Gly
NM_001289808.1:c.358A>G VV NP_001276737.1:p.Arg120Gly
NM_001885.2:c.358A>G VV NP_001876.1:p.Arg120Gly
XM_011542608.1:c.358A>G XP_011540910.1:p.Arg120Gly
XM_011542609.1:c.157A>G XP_011540911.1:p.Arg53Gly
NM_001330379.1:c.157A>G VV NP_001317308.1:p.Arg53Gly
NM_001289808.2:c.358A>G VV MANE Preferred NP_001276737.1:p.Arg120Gly
NM_001368245.1:c.358A>G VV NP_001355174.1:p.Arg120Gly
NM_001368246.1:c.157A>G VV NP_001355175.1:p.Arg53Gly
NM_001885.3:c.358A>G VV NP_001876.1:p.Arg120Gly
ENST00000227251.7:c.358A>G ENSP00000227251.3:p.Arg120Gly
ENST00000524660.1:n.149A>G
ENST00000525823.1:c.157A>G ENSP00000435411.1:p.Arg53Gly
ENST00000526167.4:c.157A>G ENSP00000434793.1:p.Arg53Gly
ENST00000526180.5:c.358A>G ENSP00000436051.1:p.Arg120Gly
ENST00000527899.5:c.358A>G ENSP00000436089.1:p.Arg120Gly
ENST00000527950.5:c.358A>G ENSP00000437149.1:p.Arg120Gly
ENST00000528961.5:c.157A>G ENSP00000435960.1:p.Arg53Gly
ENST00000529647.5:c.358A>G ENSP00000431754.1:p.Arg120Gly
ENST00000531198.5:c.358A>G ENSP00000434247.1:p.Arg120Gly
ENST00000533280.5:c.157A>G ENSP00000435046.1:p.Arg53Gly
ENST00000533475.5:c.358A>G ENSP00000433560.1:p.Arg120Gly
ENST00000616970.4:c.358A>G ENSP00000483554.1:p.Arg120Gly