Canonical Allele Identifier: CA515259308

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720453-G-A
• MyVariant Identifiers: chr22:g.51158881G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720453G>A , CM000684.2:g.50720453G>A	GRCh38
NC_000022.10:g.51158881G>A , CM000684.1:g.51158881G>A	GRCh37
NC_000022.9:g.49505747G>A	NCBI36
NG_008607.2:g.51099G>A
NG_070230.1:g.56237G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2221G>A	ENSP00000489147.2:p.Gly741Ser
ENST00000414786.7:n.2805G>A
ENST00000445220.7:c.1273G>A	ENSP00000489407.2:p.Gly425Ser
ENST00000664402.2:c.763G>A	ENSP00000499475.1:p.Gly255Ser
ENST00000673971.2:c.*1219G>A	ENSP00000501192.1:n.*1219G>A
ENST00000445220.6:c.1273G>A	ENSP00000489407.2:p.Gly425Ser
ENST00000262795.6:c.2221G>A	ENSP00000489147.2:p.Gly741Ser
ENST00000664402.1:c.763G>A	ENSP00000499475.1:p.Gly255Ser
ENST00000673971.1:c.*1219G>A	ENSP00000501192.1:n.*1219G>A
ENST00000262795.5:c.2617G>A	ENSP00000489147.1:p.Gly873Ser
ENST00000414786.6:n.2805G>A
ENST00000445220.5:c.2599G>A	ENSP00000489407.1:p.Gly867Ser