Canonical Allele Identifier: CA515259249

Gene: SHANK3

Linked Data

• dbSNP Id: rs1348668548
• gnomAD v3: 22-50720432-G-A
• gnomAD v4: 22-50720432-G-A
• MyVariant Identifiers: chr22:g.51158860G>A (hg19) ; chr22:g.50720432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720432G>A , CM000684.2:g.50720432G>A	GRCh38
NC_000022.10:g.51158860G>A , CM000684.1:g.51158860G>A	GRCh37
NC_000022.9:g.49505726G>A	NCBI36
NG_008607.2:g.51078G>A
NG_070230.1:g.56216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2200G>A	ENSP00000489147.2:p.Ala734Thr
ENST00000414786.7:n.2784G>A
ENST00000445220.7:c.1252G>A	ENSP00000489407.2:p.Ala418Thr
ENST00000664402.2:c.742G>A	ENSP00000499475.1:p.Ala248Thr
ENST00000673971.2:c.*1198G>A	ENSP00000501192.1:n.*1198G>A
ENST00000445220.6:c.1252G>A	ENSP00000489407.2:p.Ala418Thr
ENST00000262795.6:c.2200G>A	ENSP00000489147.2:p.Ala734Thr
ENST00000664402.1:c.742G>A	ENSP00000499475.1:p.Ala248Thr
ENST00000673971.1:c.*1198G>A	ENSP00000501192.1:n.*1198G>A
ENST00000262795.5:c.2596G>A	ENSP00000489147.1:p.Ala866Thr
ENST00000414786.6:n.2784G>A
ENST00000445220.5:c.2578G>A	ENSP00000489407.1:p.Ala860Thr