Canonical Allele Identifier: CA515261233

Gene: SHANK3

Linked Data

• dbSNP Id: rs1207444211
• gnomAD v2: 22-51159556-G-A
• gnomAD v4: 22-50721128-G-A
• MyVariant Identifiers: chr22:g.51159556G>A (hg19) ; chr22:g.50721128G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721128G>A , CM000684.2:g.50721128G>A	GRCh38
NC_000022.10:g.51159556G>A , CM000684.1:g.51159556G>A	GRCh37
NC_000022.9:g.49506422G>A	NCBI36
NG_008607.2:g.51774G>A
NG_070230.1:g.56912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2896G>A	ENSP00000489147.2:p.Gly966Ser
ENST00000414786.7:n.3480G>A
ENST00000445220.7:c.1948G>A	ENSP00000489407.2:p.Gly650Ser
ENST00000664402.2:c.1438G>A	ENSP00000499475.1:p.Gly480Ser
ENST00000673971.2:c.*1894G>A	ENSP00000501192.1:n.*1894G>A
ENST00000445220.6:c.1948G>A	ENSP00000489407.2:p.Gly650Ser
ENST00000262795.6:c.2896G>A	ENSP00000489147.2:p.Gly966Ser
ENST00000664402.1:c.1438G>A	ENSP00000499475.1:p.Gly480Ser
ENST00000673971.1:c.*1894G>A	ENSP00000501192.1:n.*1894G>A
ENST00000262795.5:c.3292G>A	ENSP00000489147.1:p.Gly1098Ser
ENST00000414786.6:n.3480G>A
ENST00000445220.5:c.3274G>A	ENSP00000489407.1:p.Gly1092Ser