LDH info

Canonical Allele Identifier: CA204471
Gene: SYNGAP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 208499
ClinVar RCV Id: RCV000190512
dbSNP Id: rs797045012

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33432683A>G , CM000668.2:g.33432683A>G GRCh38
NC_000006.11:g.33400460A>G , CM000668.1:g.33400460A>G GRCh37
NC_000006.10:g.33508438A>G NCBI36
NG_016137.1:g.17614A>G
NG_016137.2:g.17614A>G

Transcript Alleles

HGVS Amino-acid change
NM_006772.2:c.388-2A>G VV NP_006763.2:p.=
NM_001130066.1:c.388-2A>G VV NP_001123538.1:p.=
NM_001130066.2:c.388-2A>G VV NP_001123538.1:p.=
NM_006772.3:c.388-2A>G VV MANE Preferred NP_006763.2:p.=
ENST00000293748.9:n.343-2A>G ENSP00000293748.6:p.=
ENST00000418600.6:n.388-2A>G ENSP00000403636.3:p.=
ENST00000428982.4:c.211-2A>G ENSP00000412475.2:p.=
ENST00000449372.6:c.388-2A>G ENSP00000416519.3:p.=
ENST00000479510.2:n.583-2A>G
ENST00000628646.2:n.388-2A>G ENSP00000486431.1:p.=
ENST00000629380.2:c.388-2A>G ENSP00000486463.1:p.=