Canonical Allele Identifier: CA515261386

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721183-G-A
• MyVariant Identifiers: chr22:g.51159611G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721183G>A , CM000684.2:g.50721183G>A	GRCh38
NC_000022.10:g.51159611G>A , CM000684.1:g.51159611G>A	GRCh37
NC_000022.9:g.49506477G>A	NCBI36
NG_008607.2:g.51829G>A
NG_070230.1:g.56967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2951G>A	ENSP00000489147.2:p.Arg984Gln
ENST00000414786.7:n.3535G>A
ENST00000445220.7:c.2003G>A	ENSP00000489407.2:p.Arg668Gln
ENST00000664402.2:c.1493G>A	ENSP00000499475.1:p.Arg498Gln
ENST00000673971.2:c.*1949G>A	ENSP00000501192.1:n.*1949G>A
ENST00000445220.6:c.2003G>A	ENSP00000489407.2:p.Arg668Gln
ENST00000262795.6:c.2951G>A	ENSP00000489147.2:p.Arg984Gln
ENST00000664402.1:c.1493G>A	ENSP00000499475.1:p.Arg498Gln
ENST00000673971.1:c.*1949G>A	ENSP00000501192.1:n.*1949G>A
ENST00000262795.5:c.3347G>A	ENSP00000489147.1:p.Arg1116Gln
ENST00000414786.6:n.3535G>A
ENST00000445220.5:c.3329G>A	ENSP00000489407.1:p.Arg1110Gln