Canonical Allele Identifier: CA515261243

Gene: SHANK3

Linked Data

• dbSNP Id: rs1285337155
• gnomAD v2: 22-51159559-A-G
• MyVariant Identifiers: chr22:g.51159559A>G (hg19) ; chr22:g.50721131A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721131A>G , CM000684.2:g.50721131A>G	GRCh38
NC_000022.10:g.51159559A>G , CM000684.1:g.51159559A>G	GRCh37
NC_000022.9:g.49506425A>G	NCBI36
NG_008607.2:g.51777A>G
NG_070230.1:g.56915A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2899A>G	ENSP00000489147.2:p.Lys967Glu
ENST00000414786.7:n.3483A>G
ENST00000445220.7:c.1951A>G	ENSP00000489407.2:p.Lys651Glu
ENST00000664402.2:c.1441A>G	ENSP00000499475.1:p.Lys481Glu
ENST00000673971.2:c.*1897A>G	ENSP00000501192.1:n.*1897A>G
ENST00000445220.6:c.1951A>G	ENSP00000489407.2:p.Lys651Glu
ENST00000262795.6:c.2899A>G	ENSP00000489147.2:p.Lys967Glu
ENST00000664402.1:c.1441A>G	ENSP00000499475.1:p.Lys481Glu
ENST00000673971.1:c.*1897A>G	ENSP00000501192.1:n.*1897A>G
ENST00000262795.5:c.3295A>G	ENSP00000489147.1:p.Lys1099Glu
ENST00000414786.6:n.3483A>G
ENST00000445220.5:c.3277A>G	ENSP00000489407.1:p.Lys1093Glu