Canonical Allele Identifier: CA515267138

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730998C>A , CM000684.2:g.50730998C>A	GRCh38
NC_000022.10:g.51169426C>A , CM000684.1:g.51169426C>A	GRCh37
NC_000022.9:g.49516292C>A	NCBI36
NG_008607.2:g.61644C>A
NG_070230.1:g.66782C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.4879C>A	ENSP00000489147.1:p.Arg1627Ser
ENST00000262795.6:c.4510C>A	ENSP00000489147.2:p.Arg1504Ser
ENST00000262795.7:c.4510C>A	ENSP00000489147.2:p.Arg1504Ser
ENST00000414786.6:n.5094C>A
ENST00000414786.7:n.5094C>A
ENST00000445220.5:c.4861C>A	ENSP00000489407.1:p.Arg1621Ser
ENST00000445220.6:c.3562C>A	ENSP00000489407.2:p.Arg1188Ser
ENST00000445220.7:c.3562C>A	ENSP00000489407.2:p.Arg1188Ser
ENST00000659388.1:c.325C>A	ENSP00000499632.1:p.Arg109Ser
ENST00000664402.1:c.3052C>A	ENSP00000499475.1:p.Arg1018Ser
ENST00000664402.2:c.3052C>A	ENSP00000499475.1:p.Arg1018Ser
ENST00000673971.1:c.*3508C>A	ENSP00000501192.1:n.*3508C>A
ENST00000673971.2:c.*3508C>A	ENSP00000501192.1:n.*3508C>A