Canonical Allele Identifier: CA515260057

Gene: SHANK3

Linked Data

• dbSNP Id: rs1274164872
• gnomAD v3: 22-50720707-G-A
• gnomAD v4: 22-50720707-G-A
• MyVariant Identifiers: chr22:g.51159135G>A (hg19) ; chr22:g.50720707G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720707G>A , CM000684.2:g.50720707G>A	GRCh38
NC_000022.10:g.51159135G>A , CM000684.1:g.51159135G>A	GRCh37
NC_000022.9:g.49506001G>A	NCBI36
NG_008607.2:g.51353G>A
NG_070230.1:g.56491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2475G>A	ENSP00000489147.2:p.Leu825=
ENST00000414786.7:n.3059G>A
ENST00000445220.7:c.1527G>A	ENSP00000489407.2:p.Leu509=
ENST00000664402.2:c.1017G>A	ENSP00000499475.1:p.Leu339=
ENST00000673971.2:c.*1473G>A	ENSP00000501192.1:n.*1473G>A
ENST00000445220.6:c.1527G>A	ENSP00000489407.2:p.Leu509=
ENST00000262795.6:c.2475G>A	ENSP00000489147.2:p.Leu825=
ENST00000664402.1:c.1017G>A	ENSP00000499475.1:p.Leu339=
ENST00000673971.1:c.*1473G>A	ENSP00000501192.1:n.*1473G>A
ENST00000262795.5:c.2871G>A	ENSP00000489147.1:p.Leu957=
ENST00000414786.6:n.3059G>A
ENST00000445220.5:c.2853G>A	ENSP00000489407.1:p.Leu951=