Canonical Allele Identifier: CA515260469

Gene: SHANK3

Linked Data

• dbSNP Id: rs1328375252
• gnomAD v3: 22-50720849-G-A
• gnomAD v4: 22-50720849-G-A
• MyVariant Identifiers: chr22:g.51159277G>A (hg19) ; chr22:g.50720849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720849G>A , CM000684.2:g.50720849G>A	GRCh38
NC_000022.10:g.51159277G>A , CM000684.1:g.51159277G>A	GRCh37
NC_000022.9:g.49506143G>A	NCBI36
NG_008607.2:g.51495G>A
NG_070230.1:g.56633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2617G>A	ENSP00000489147.2:p.Gly873Arg
ENST00000414786.7:n.3201G>A
ENST00000445220.7:c.1669G>A	ENSP00000489407.2:p.Gly557Arg
ENST00000664402.2:c.1159G>A	ENSP00000499475.1:p.Gly387Arg
ENST00000673971.2:c.*1615G>A	ENSP00000501192.1:n.*1615G>A
ENST00000445220.6:c.1669G>A	ENSP00000489407.2:p.Gly557Arg
ENST00000262795.6:c.2617G>A	ENSP00000489147.2:p.Gly873Arg
ENST00000664402.1:c.1159G>A	ENSP00000499475.1:p.Gly387Arg
ENST00000673971.1:c.*1615G>A	ENSP00000501192.1:n.*1615G>A
ENST00000262795.5:c.3013G>A	ENSP00000489147.1:p.Gly1005Arg
ENST00000414786.6:n.3201G>A
ENST00000445220.5:c.2995G>A	ENSP00000489407.1:p.Gly999Arg