Canonical Allele Identifier: CA515267319

Gene: SHANK3

Linked Data

• dbSNP Id: rs1336335943
• gnomAD v3: 22-50731045-C-G
• gnomAD v4: 22-50731045-C-G
• MyVariant Identifiers: chr22:g.51169473C>G (hg19) ; chr22:g.50731045C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731045C>G , CM000684.2:g.50731045C>G	GRCh38
NC_000022.10:g.51169473C>G , CM000684.1:g.51169473C>G	GRCh37
NC_000022.9:g.49516339C>G	NCBI36
NG_008607.2:g.61691C>G
NG_070230.1:g.66829C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4557C>G	ENSP00000489147.2:p.Pro1519=
ENST00000414786.7:n.5141C>G
ENST00000445220.7:c.3609C>G	ENSP00000489407.2:p.Pro1203=
ENST00000664402.2:c.3099C>G	ENSP00000499475.1:p.Pro1033=
ENST00000673971.2:c.*3555C>G	ENSP00000501192.1:n.*3555C>G
ENST00000445220.6:c.3609C>G	ENSP00000489407.2:p.Pro1203=
ENST00000262795.6:c.4557C>G	ENSP00000489147.2:p.Pro1519=
ENST00000659388.1:c.372C>G	ENSP00000499632.1:p.Pro124=
ENST00000664402.1:c.3099C>G	ENSP00000499475.1:p.Pro1033=
ENST00000673971.1:c.*3555C>G	ENSP00000501192.1:n.*3555C>G
ENST00000262795.5:c.4926C>G	ENSP00000489147.1:p.Pro1642=
ENST00000414786.6:n.5141C>G
ENST00000445220.5:c.4908C>G	ENSP00000489407.1:p.Pro1636=