Canonical Allele Identifier: CA515260516
Gene: SHANK3 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.50720865G>C
GRCh37 chr22:g.51159293G>C
Revel Score:
ENST00000262795 0.191
ENST00000445220 0.191
ClinVar Allele:
1189029
ClinVar RCV:
RCV001563050
ClinVar Variation:
1198776
dbSNP:
767058690
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50720865G>C , CM000684.2:g.50720865G>C GRCh38
NC_000022.10:g.51159293G>C , CM000684.1:g.51159293G>C GRCh37
NC_000022.9:g.49506159G>C NCBI36
NG_008607.2:g.51511G>C
NG_070230.1:g.56649G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.2633G>C ENSP00000489147.2:p.Gly878Ala
ENST00000414786.7:n.3217G>C
ENST00000445220.7:c.1685G>C ENSP00000489407.2:p.Gly562Ala
ENST00000664402.2:c.1175G>C ENSP00000499475.1:p.Gly392Ala
ENST00000673971.2:c.*1631G>C ENSP00000501192.1:n.*1631G>C
ENST00000445220.6:c.1685G>C ENSP00000489407.2:p.Gly562Ala
ENST00000262795.6:c.2633G>C ENSP00000489147.2:p.Gly878Ala
ENST00000664402.1:c.1175G>C ENSP00000499475.1:p.Gly392Ala
ENST00000673971.1:c.*1631G>C ENSP00000501192.1:n.*1631G>C
ENST00000262795.5:c.3029G>C ENSP00000489147.1:p.Gly1010Ala
ENST00000414786.6:n.3217G>C
ENST00000445220.5:c.3011G>C ENSP00000489407.1:p.Gly1004Ala
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