Canonical Allele Identifier: CA10325956

Gene: SHANK3

Linked Data

• dbSNP Id: rs768733988
• ExAC: 22:51159376 G / A
• gnomAD v3: 22-50720948-G-A
• gnomAD v4: 22-50720948-G-A
• MyVariant Identifiers: chr22:g.51159376G>A (hg19) ; chr22:g.50720948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720948G>A , CM000684.2:g.50720948G>A	GRCh38
NC_000022.10:g.51159376G>A , CM000684.1:g.51159376G>A	GRCh37
NC_000022.9:g.49506242G>A	NCBI36
NG_008607.2:g.51594G>A
NG_070230.1:g.56732G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2716G>A	ENSP00000489147.2:p.Ala906Thr
ENST00000414786.7:n.3300G>A
ENST00000445220.7:c.1768G>A	ENSP00000489407.2:p.Ala590Thr
ENST00000664402.2:c.1258G>A	ENSP00000499475.1:p.Ala420Thr
ENST00000673971.2:c.*1714G>A	ENSP00000501192.1:n.*1714G>A
ENST00000445220.6:c.1768G>A	ENSP00000489407.2:p.Ala590Thr
ENST00000262795.6:c.2716G>A	ENSP00000489147.2:p.Ala906Thr
ENST00000664402.1:c.1258G>A	ENSP00000499475.1:p.Ala420Thr
ENST00000673971.1:c.*1714G>A	ENSP00000501192.1:n.*1714G>A
ENST00000262795.5:c.3112G>A	ENSP00000489147.1:p.Ala1038Thr
ENST00000414786.6:n.3300G>A
ENST00000445220.5:c.3094G>A	ENSP00000489407.1:p.Ala1032Thr