Canonical Allele Identifier: CA515255061

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51136068A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697640A>C , CM000684.2:g.50697640A>C	GRCh38
NC_000022.10:g.51136068A>C , CM000684.1:g.51136068A>C	GRCh37
NC_000022.9:g.49482934A>C	NCBI36
NG_008607.2:g.28286A>C
NG_070230.1:g.33505A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1024A>C	ENSP00000489147.2:p.Lys342Gln
ENST00000414786.7:n.1608A>C
ENST00000445220.7:c.76A>C	ENSP00000489407.2:p.Lys26Gln
ENST00000673971.2:c.1381A>C	ENSP00000501192.1:p.Lys461Gln
ENST00000445220.6:c.76A>C	ENSP00000489407.2:p.Lys26Gln
ENST00000262795.6:c.1024A>C	ENSP00000489147.2:p.Lys342Gln
ENST00000673971.1:c.1381A>C	ENSP00000501192.1:p.Lys461Gln
ENST00000673995.1:c.77A>C
ENST00000262795.5:c.1420A>C	ENSP00000489147.1:p.Lys474Gln
ENST00000414786.6:n.1608A>C
ENST00000445220.5:c.1402A>C	ENSP00000489407.1:p.Lys468Gln