Canonical Allele Identifier: CA515259883

Gene: SHANK3

Linked Data

• dbSNP Id: rs1170769426
• gnomAD v2: 22-51159076-G-A
• gnomAD v3: 22-50720648-G-A
• gnomAD v4: 22-50720648-G-A
• MyVariant Identifiers: chr22:g.51159076G>A (hg19) ; chr22:g.50720648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720648G>A , CM000684.2:g.50720648G>A	GRCh38
NC_000022.10:g.51159076G>A , CM000684.1:g.51159076G>A	GRCh37
NC_000022.9:g.49505942G>A	NCBI36
NG_008607.2:g.51294G>A
NG_070230.1:g.56432G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2416G>A	ENSP00000489147.2:p.Ala806Thr
ENST00000414786.7:n.3000G>A
ENST00000445220.7:c.1468G>A	ENSP00000489407.2:p.Ala490Thr
ENST00000664402.2:c.958G>A	ENSP00000499475.1:p.Ala320Thr
ENST00000673971.2:c.*1414G>A	ENSP00000501192.1:n.*1414G>A
ENST00000445220.6:c.1468G>A	ENSP00000489407.2:p.Ala490Thr
ENST00000262795.6:c.2416G>A	ENSP00000489147.2:p.Ala806Thr
ENST00000664402.1:c.958G>A	ENSP00000499475.1:p.Ala320Thr
ENST00000673971.1:c.*1414G>A	ENSP00000501192.1:n.*1414G>A
ENST00000262795.5:c.2812G>A	ENSP00000489147.1:p.Ala938Thr
ENST00000414786.6:n.3000G>A
ENST00000445220.5:c.2794G>A	ENSP00000489407.1:p.Ala932Thr