Canonical Allele Identifier: CA515261168

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721104-T-G
• MyVariant Identifiers: chr22:g.51159532T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721104T>G , CM000684.2:g.50721104T>G	GRCh38
NC_000022.10:g.51159532T>G , CM000684.1:g.51159532T>G	GRCh37
NC_000022.9:g.49506398T>G	NCBI36
NG_008607.2:g.51750T>G
NG_070230.1:g.56888T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2872T>G	ENSP00000489147.2:p.Ser958Ala
ENST00000414786.7:n.3456T>G
ENST00000445220.7:c.1924T>G	ENSP00000489407.2:p.Ser642Ala
ENST00000664402.2:c.1414T>G	ENSP00000499475.1:p.Ser472Ala
ENST00000673971.2:c.*1870T>G	ENSP00000501192.1:n.*1870T>G
ENST00000445220.6:c.1924T>G	ENSP00000489407.2:p.Ser642Ala
ENST00000262795.6:c.2872T>G	ENSP00000489147.2:p.Ser958Ala
ENST00000664402.1:c.1414T>G	ENSP00000499475.1:p.Ser472Ala
ENST00000673971.1:c.*1870T>G	ENSP00000501192.1:n.*1870T>G
ENST00000262795.5:c.3268T>G	ENSP00000489147.1:p.Ser1090Ala
ENST00000414786.6:n.3456T>G
ENST00000445220.5:c.3250T>G	ENSP00000489407.1:p.Ser1084Ala