Canonical Allele Identifier: CA515264407

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160520C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722092C>A , CM000684.2:g.50722092C>A	GRCh38
NC_000022.10:g.51160520C>A , CM000684.1:g.51160520C>A	GRCh37
NC_000022.9:g.49507386C>A	NCBI36
NG_008607.2:g.52738C>A
NG_070230.1:g.57876C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3860C>A	ENSP00000489147.2:p.Ser1287Tyr
ENST00000414786.7:n.4444C>A
ENST00000445220.7:c.2912C>A	ENSP00000489407.2:p.Ser971Tyr
ENST00000664402.2:c.2402C>A	ENSP00000499475.1:p.Ser801Tyr
ENST00000673971.2:c.*2858C>A	ENSP00000501192.1:n.*2858C>A
ENST00000445220.6:c.2912C>A	ENSP00000489407.2:p.Ser971Tyr
ENST00000262795.6:c.3860C>A	ENSP00000489147.2:p.Ser1287Tyr
ENST00000664402.1:c.2402C>A	ENSP00000499475.1:p.Ser801Tyr
ENST00000673971.1:c.*2858C>A	ENSP00000501192.1:n.*2858C>A
ENST00000262795.5:c.4256C>A	ENSP00000489147.1:p.Ser1419Tyr
ENST00000414786.6:n.4444C>A
ENST00000445220.5:c.4238C>A	ENSP00000489407.1:p.Ser1413Tyr