Canonical Allele Identifier: CA515259694

Gene: SHANK3

Linked Data

• dbSNP Id: rs1004230632
• gnomAD v4: 22-50720584-A-T
• MyVariant Identifiers: chr22:g.51159012A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720584A>T , CM000684.2:g.50720584A>T	GRCh38
NC_000022.10:g.51159012A>T , CM000684.1:g.51159012A>T	GRCh37
NC_000022.9:g.49505878A>T	NCBI36
NG_008607.2:g.51230A>T
NG_070230.1:g.56368A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2352A>T	ENSP00000489147.2:p.Arg784=
ENST00000414786.7:n.2936A>T
ENST00000445220.7:c.1404A>T	ENSP00000489407.2:p.Arg468=
ENST00000664402.2:c.894A>T	ENSP00000499475.1:p.Arg298=
ENST00000673971.2:c.*1350A>T	ENSP00000501192.1:n.*1350A>T
ENST00000445220.6:c.1404A>T	ENSP00000489407.2:p.Arg468=
ENST00000262795.6:c.2352A>T	ENSP00000489147.2:p.Arg784=
ENST00000664402.1:c.894A>T	ENSP00000499475.1:p.Arg298=
ENST00000673971.1:c.*1350A>T	ENSP00000501192.1:n.*1350A>T
ENST00000262795.5:c.2748A>T	ENSP00000489147.1:p.Arg916=
ENST00000414786.6:n.2936A>T
ENST00000445220.5:c.2730A>T	ENSP00000489407.1:p.Arg910=