LDH info

Canonical Allele Identifier: CA314947
Gene: GRIN2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 205656
dbSNP Id: rs762659685

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9822286C>T , CM000678.2:g.9822286C>T GRCh38
NC_000016.9:g.9916143C>T , CM000678.1:g.9916143C>T GRCh37
NC_000016.8:g.9823644C>T NCBI36
NG_011812.1:g.365469G>A
NG_011812.2:g.365469G>A

Transcript Alleles

HGVS Amino-acid change
NM_000833.4:c.2146G>A VV NP_000824.1:p.Ala716Thr
NM_001134407.2:c.2146G>A VV NP_001127879.1:p.Ala716Thr
NM_001134408.2:c.2146G>A VV NP_001127880.1:p.Ala716Thr
XM_011522456.1:c.1987G>A XP_011520758.1:p.Ala663Thr
XM_011522457.1:c.1888G>A XP_011520759.1:p.Ala630Thr
XM_011522458.1:c.1675G>A XP_011520760.1:p.Ala559Thr
XM_011522459.1:c.1675G>A XP_011520761.1:p.Ala559Thr
XM_011522460.1:c.1675G>A XP_011520762.1:p.Ala559Thr
XM_011522461.1:c.2146G>A XP_011520763.1:p.Ala716Thr
XM_011522458.3:c.1675G>A XP_011520760.1:p.Ala559Thr
XM_011522461.3:c.2146G>A XP_011520763.1:p.Ala716Thr
XM_017023172.1:c.2302G>A XP_016878661.1:p.Ala768Thr
XM_017023173.1:c.2302G>A XP_016878662.1:p.Ala768Thr
NM_001134407.3:c.2146G>A VV MANE Preferred NP_001127879.1:p.Ala716Thr
NM_000833.5:c.2146G>A VV NP_000824.1:p.Ala716Thr
ENST00000330684.3:c.2146G>A ENSP00000332549.3:p.Ala716Thr
ENST00000396573.6:c.2146G>A ENSP00000379818.2:p.Ala716Thr
ENST00000396575.6:n.1735G>A ENSP00000379820.3:p.Ala579Thr
ENST00000461292.3:n.1785G>A
ENST00000535259.5:c.1735G>A ENSP00000441572.2:p.Ala579Thr
ENST00000562109.5:c.2146G>A ENSP00000454998.1:p.Ala716Thr