Canonical Allele Identifier: CA515264576

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50722146-C-G
• MyVariant Identifiers: chr22:g.51160574C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722146C>G , CM000684.2:g.50722146C>G	GRCh38
NC_000022.10:g.51160574C>G , CM000684.1:g.51160574C>G	GRCh37
NC_000022.9:g.49507440C>G	NCBI36
NG_008607.2:g.52792C>G
NG_070230.1:g.57930C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3914C>G	ENSP00000489147.2:p.Ser1305Trp
ENST00000414786.7:n.4498C>G
ENST00000445220.7:c.2966C>G	ENSP00000489407.2:p.Ser989Trp
ENST00000664402.2:c.2456C>G	ENSP00000499475.1:p.Ser819Trp
ENST00000673971.2:c.*2912C>G	ENSP00000501192.1:n.*2912C>G
ENST00000445220.6:c.2966C>G	ENSP00000489407.2:p.Ser989Trp
ENST00000262795.6:c.3914C>G	ENSP00000489147.2:p.Ser1305Trp
ENST00000664402.1:c.2456C>G	ENSP00000499475.1:p.Ser819Trp
ENST00000673971.1:c.*2912C>G	ENSP00000501192.1:n.*2912C>G
ENST00000262795.5:c.4310C>G	ENSP00000489147.1:p.Ser1437Trp
ENST00000414786.6:n.4498C>G
ENST00000445220.5:c.4292C>G	ENSP00000489407.1:p.Ser1431Trp