LDH info

Canonical Allele Identifier: CA145320
Gene: GRIN2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 88734
dbSNP Id: rs397518472
COSMIC: COSM177417

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9822391G>A , CM000678.2:g.9822391G>A GRCh38
NC_000016.9:g.9916248G>A , CM000678.1:g.9916248G>A GRCh37
NC_000016.8:g.9823749G>A NCBI36
NG_011812.1:g.365364C>T
NG_011812.2:g.365364C>T

Transcript Alleles

HGVS Amino-acid change
NM_000833.4:c.2041C>T VV NP_000824.1:p.Arg681Ter
NM_001134407.2:c.2041C>T VV NP_001127879.1:p.Arg681Ter
NM_001134408.2:c.2041C>T VV NP_001127880.1:p.Arg681Ter
XM_011522456.1:c.1882C>T XP_011520758.1:p.Arg628Ter
XM_011522457.1:c.1783C>T XP_011520759.1:p.Arg595Ter
XM_011522458.1:c.1570C>T XP_011520760.1:p.Arg524Ter
XM_011522459.1:c.1570C>T XP_011520761.1:p.Arg524Ter
XM_011522460.1:c.1570C>T XP_011520762.1:p.Arg524Ter
XM_011522461.1:c.2041C>T XP_011520763.1:p.Arg681Ter
XM_011522458.3:c.1570C>T XP_011520760.1:p.Arg524Ter
XM_011522461.3:c.2041C>T XP_011520763.1:p.Arg681Ter
XM_017023172.1:c.2197C>T XP_016878661.1:p.Arg733Ter
XM_017023173.1:c.2197C>T XP_016878662.1:p.Arg733Ter
NM_001134407.3:c.2041C>T VV MANE Preferred NP_001127879.1:p.Arg681Ter
NM_000833.5:c.2041C>T VV NP_000824.1:p.Arg681Ter
ENST00000330684.3:c.2041C>T ENSP00000332549.3:p.Arg681Ter
ENST00000396573.6:c.2041C>T ENSP00000379818.2:p.Arg681Ter
ENST00000396575.6:n.1630C>T ENSP00000379820.3:p.Arg544Ter
ENST00000461292.3:n.1680C>T
ENST00000535259.5:c.1630C>T ENSP00000441572.2:p.Arg544Ter
ENST00000562109.5:c.2041C>T ENSP00000454998.1:p.Arg681Ter