Canonical Allele Identifier: CA325577994

Gene: SHANK3

Linked Data

• dbSNP Id: rs1014359175
• gnomAD v3: 22-50720264-C-G
• gnomAD v4: 22-50720264-C-G
• MyVariant Identifiers: chr22:g.51158692C>G (hg19) ; chr22:g.50720264C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720264C>G , CM000684.2:g.50720264C>G	GRCh38
NC_000022.10:g.51158692C>G , CM000684.1:g.51158692C>G	GRCh37
NC_000022.9:g.49505558C>G	NCBI36
NG_008607.2:g.50910C>G
NG_070230.1:g.56048C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2032C>G	ENSP00000489147.2:p.Arg678Gly
ENST00000414786.7:n.2616C>G
ENST00000445220.7:c.1084C>G	ENSP00000489407.2:p.Arg362Gly
ENST00000664402.2:c.574C>G	ENSP00000499475.1:p.Arg192Gly
ENST00000673971.2:c.*1030C>G	ENSP00000501192.1:n.*1030C>G
ENST00000445220.6:c.1084C>G	ENSP00000489407.2:p.Arg362Gly
ENST00000262795.6:c.2032C>G	ENSP00000489147.2:p.Arg678Gly
ENST00000664402.1:c.574C>G	ENSP00000499475.1:p.Arg192Gly
ENST00000673971.1:c.*1030C>G	ENSP00000501192.1:n.*1030C>G
ENST00000262795.5:c.2428C>G	ENSP00000489147.1:p.Arg810Gly
ENST00000414786.6:n.2616C>G
ENST00000445220.5:c.2410C>G	ENSP00000489407.1:p.Arg804Gly