Canonical Allele Identifier: CA515259687

Gene: SHANK3

Linked Data

• dbSNP Id: rs1327088096
• gnomAD v2: 22-51159010-C-A
• gnomAD v3: 22-50720582-C-A
• gnomAD v4: 22-50720582-C-A
• MyVariant Identifiers: chr22:g.51159010C>A (hg19) ; chr22:g.50720582C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720582C>A , CM000684.2:g.50720582C>A	GRCh38
NC_000022.10:g.51159010C>A , CM000684.1:g.51159010C>A	GRCh37
NC_000022.9:g.49505876C>A	NCBI36
NG_008607.2:g.51228C>A
NG_070230.1:g.56366C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2350C>A	ENSP00000489147.2:p.Arg784=
ENST00000414786.7:n.2934C>A
ENST00000445220.7:c.1402C>A	ENSP00000489407.2:p.Arg468=
ENST00000664402.2:c.892C>A	ENSP00000499475.1:p.Arg298=
ENST00000673971.2:c.*1348C>A	ENSP00000501192.1:n.*1348C>A
ENST00000445220.6:c.1402C>A	ENSP00000489407.2:p.Arg468=
ENST00000262795.6:c.2350C>A	ENSP00000489147.2:p.Arg784=
ENST00000664402.1:c.892C>A	ENSP00000499475.1:p.Arg298=
ENST00000673971.1:c.*1348C>A	ENSP00000501192.1:n.*1348C>A
ENST00000262795.5:c.2746C>A	ENSP00000489147.1:p.Arg916=
ENST00000414786.6:n.2934C>A
ENST00000445220.5:c.2728C>A	ENSP00000489407.1:p.Arg910=