LDH info

Canonical Allele Identifier: CA145311
Gene: GRIN2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 88727
dbSNP Id: rs397518465

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9937958C>T , CM000678.2:g.9937958C>T GRCh38
NC_000016.9:g.10031815C>T , CM000678.1:g.10031815C>T GRCh37
NC_000016.8:g.9939316C>T NCBI36
NG_011812.1:g.249797G>A
NG_011812.2:g.249797G>A

Transcript Alleles

HGVS Amino-acid change
NM_000833.4:c.1007+1G>A VV NP_000824.1:p.=
NM_001134407.2:c.1007+1G>A VV NP_001127879.1:p.=
NM_001134408.2:c.1007+1G>A VV NP_001127880.1:p.=
XM_011522456.1:c.848+1G>A XP_011520758.1:p.=
XM_011522457.1:c.749+1G>A XP_011520759.1:p.=
XM_011522458.1:c.536+1G>A XP_011520760.1:p.=
XM_011522459.1:c.536+1G>A XP_011520761.1:p.=
XM_011522460.1:c.536+1G>A XP_011520762.1:p.=
XM_011522461.1:c.1007+1G>A XP_011520763.1:p.=
XM_011522458.3:c.536+1G>A XP_011520760.1:p.=
XM_011522461.3:c.1007+1G>A XP_011520763.1:p.=
XM_017023172.1:c.1163+1G>A XP_016878661.1:p.=
XM_017023173.1:c.1163+1G>A XP_016878662.1:p.=
NM_001134407.3:c.1007+1G>A VV MANE Preferred NP_001127879.1:p.=
NM_000833.5:c.1007+1G>A VV NP_000824.1:p.=
ENST00000330684.3:c.1007+1G>A ENSP00000332549.3:p.=
ENST00000396573.6:c.1007+1G>A ENSP00000379818.2:p.=
ENST00000396575.6:n.596+1G>A ENSP00000379820.3:p.=
ENST00000461292.3:n.646+1G>A
ENST00000535259.5:c.596+1G>A ENSP00000441572.2:p.=
ENST00000562109.5:c.1007+1G>A ENSP00000454998.1:p.=
ENST00000566683.1:n.241-46858G>A
ENST00000568247.3:n.900G>A