LDH info

Canonical Allele Identifier: CA16043098
Gene: GRIN2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372911
ClinVar RCV Id: RCV000413937
dbSNP Id: rs1057518070

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9822294A>C , CM000678.2:g.9822294A>C GRCh38
NC_000016.9:g.9916151A>C , CM000678.1:g.9916151A>C GRCh37
NC_000016.8:g.9823652A>C NCBI36
NG_011812.1:g.365461T>G
NG_011812.2:g.365461T>G

Transcript Alleles

HGVS Amino-acid change
NM_000833.4:c.2138T>G VV NP_000824.1:p.Val713Gly
NM_001134407.2:c.2138T>G VV NP_001127879.1:p.Val713Gly
NM_001134408.2:c.2138T>G VV NP_001127880.1:p.Val713Gly
XM_011522456.1:c.1979T>G XP_011520758.1:p.Val660Gly
XM_011522457.1:c.1880T>G XP_011520759.1:p.Val627Gly
XM_011522458.1:c.1667T>G XP_011520760.1:p.Val556Gly
XM_011522459.1:c.1667T>G XP_011520761.1:p.Val556Gly
XM_011522460.1:c.1667T>G XP_011520762.1:p.Val556Gly
XM_011522461.1:c.2138T>G XP_011520763.1:p.Val713Gly
XM_011522458.3:c.1667T>G XP_011520760.1:p.Val556Gly
XM_011522461.3:c.2138T>G XP_011520763.1:p.Val713Gly
XM_017023172.1:c.2294T>G XP_016878661.1:p.Val765Gly
XM_017023173.1:c.2294T>G XP_016878662.1:p.Val765Gly
NM_001134407.3:c.2138T>G VV MANE Preferred NP_001127879.1:p.Val713Gly
NM_000833.5:c.2138T>G VV NP_000824.1:p.Val713Gly
ENST00000330684.3:c.2138T>G ENSP00000332549.3:p.Val713Gly
ENST00000396573.6:c.2138T>G ENSP00000379818.2:p.Val713Gly
ENST00000396575.6:n.1727T>G ENSP00000379820.3:p.Val576Gly
ENST00000461292.3:n.1777T>G
ENST00000535259.5:c.1727T>G ENSP00000441572.2:p.Val576Gly
ENST00000562109.5:c.2138T>G ENSP00000454998.1:p.Val713Gly