LDH info

Canonical Allele Identifier: CA257674
Gene: CRYAB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16956
ClinVar RCV Id: RCV000018468
dbSNP Id: rs104894202

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111908841G>A , CM000673.2:g.111908841G>A GRCh38
NC_000011.9:g.111779565G>A , CM000673.1:g.111779565G>A GRCh37
NC_000011.8:g.111284775G>A NCBI36
NG_009824.2:g.19882C>T
NG_033080.1:g.1106G>A
NG_009824.3:g.19882C>T
NG_033080.2:g.1106G>A

Transcript Alleles

HGVS Amino-acid change
NM_001289807.1:c.451C>T VV NP_001276736.1:p.Gln151Ter
NM_001289808.1:c.451C>T VV NP_001276737.1:p.Gln151Ter
NM_001885.2:c.451C>T VV NP_001876.1:p.Gln151Ter
XM_011542608.1:c.451C>T XP_011540910.1:p.Gln151Ter
XM_011542609.1:c.250C>T XP_011540911.1:p.Gln84Ter
NM_001330379.1:c.250C>T VV NP_001317308.1:p.Gln84Ter
NM_001289808.2:c.451C>T VV MANE Preferred NP_001276737.1:p.Gln151Ter
NM_001368245.1:c.451C>T VV NP_001355174.1:p.Gln151Ter
NM_001368246.1:c.250C>T VV NP_001355175.1:p.Gln84Ter
NM_001885.3:c.451C>T VV NP_001876.1:p.Gln151Ter
ENST00000227251.7:c.451C>T ENSP00000227251.3:p.Gln151Ter
ENST00000524660.1:n.242C>T
ENST00000525823.1:c.250C>T ENSP00000435411.1:p.Gln84Ter
ENST00000526167.4:c.250C>T ENSP00000434793.1:p.Gln84Ter
ENST00000526180.5:c.451C>T ENSP00000436051.1:p.Gln151Ter
ENST00000527899.5:c.451C>T ENSP00000436089.1:p.Gln151Ter
ENST00000527950.5:c.451C>T ENSP00000437149.1:p.Gln151Ter
ENST00000528961.5:c.250C>T ENSP00000435960.1:p.Gln84Ter
ENST00000531198.5:c.451C>T ENSP00000434247.1:p.Gln151Ter
ENST00000533280.5:c.250C>T ENSP00000435046.1:p.Gln84Ter
ENST00000533475.5:c.451C>T ENSP00000433560.1:p.Gln151Ter
ENST00000616970.4:c.451C>T ENSP00000483554.1:p.Gln151Ter