Canonical Allele Identifier: CA515263788

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721882-A-C
• MyVariant Identifiers: chr22:g.51160310A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721882A>C , CM000684.2:g.50721882A>C	GRCh38
NC_000022.10:g.51160310A>C , CM000684.1:g.51160310A>C	GRCh37
NC_000022.9:g.49507176A>C	NCBI36
NG_008607.2:g.52528A>C
NG_070230.1:g.57666A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3650A>C	ENSP00000489147.2:p.Glu1217Ala
ENST00000414786.7:n.4234A>C
ENST00000445220.7:c.2702A>C	ENSP00000489407.2:p.Glu901Ala
ENST00000664402.2:c.2192A>C	ENSP00000499475.1:p.Glu731Ala
ENST00000673971.2:c.*2648A>C	ENSP00000501192.1:n.*2648A>C
ENST00000445220.6:c.2702A>C	ENSP00000489407.2:p.Glu901Ala
ENST00000262795.6:c.3650A>C	ENSP00000489147.2:p.Glu1217Ala
ENST00000664402.1:c.2192A>C	ENSP00000499475.1:p.Glu731Ala
ENST00000673971.1:c.*2648A>C	ENSP00000501192.1:n.*2648A>C
ENST00000262795.5:c.4046A>C	ENSP00000489147.1:p.Glu1349Ala
ENST00000414786.6:n.4234A>C
ENST00000445220.5:c.4028A>C	ENSP00000489407.1:p.Glu1343Ala