Canonical Allele Identifier: CA515259955

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083276800
• gnomAD v3: 22-50720671-G-A
• gnomAD v4: 22-50720671-G-A
• MyVariant Identifiers: chr22:g.51159099G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720671G>A , CM000684.2:g.50720671G>A	GRCh38
NC_000022.10:g.51159099G>A , CM000684.1:g.51159099G>A	GRCh37
NC_000022.9:g.49505965G>A	NCBI36
NG_008607.2:g.51317G>A
NG_070230.1:g.56455G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2439G>A	ENSP00000489147.2:p.Lys813=
ENST00000414786.7:n.3023G>A
ENST00000445220.7:c.1491G>A	ENSP00000489407.2:p.Lys497=
ENST00000664402.2:c.981G>A	ENSP00000499475.1:p.Lys327=
ENST00000673971.2:c.*1437G>A	ENSP00000501192.1:n.*1437G>A
ENST00000445220.6:c.1491G>A	ENSP00000489407.2:p.Lys497=
ENST00000262795.6:c.2439G>A	ENSP00000489147.2:p.Lys813=
ENST00000664402.1:c.981G>A	ENSP00000499475.1:p.Lys327=
ENST00000673971.1:c.*1437G>A	ENSP00000501192.1:n.*1437G>A
ENST00000262795.5:c.2835G>A	ENSP00000489147.1:p.Lys945=
ENST00000414786.6:n.3023G>A
ENST00000445220.5:c.2817G>A	ENSP00000489407.1:p.Lys939=