Canonical Allele Identifier: CA515267345

Gene: SHANK3

Linked Data

• dbSNP Id: rs2146843777
• gnomAD v4: 22-50731052-G-A
• MyVariant Identifiers: chr22:g.51169480G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731052G>A , CM000684.2:g.50731052G>A	GRCh38
NC_000022.10:g.51169480G>A , CM000684.1:g.51169480G>A	GRCh37
NC_000022.9:g.49516346G>A	NCBI36
NG_008607.2:g.61698G>A
NG_070230.1:g.66836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4564G>A	ENSP00000489147.2:p.Ala1522Thr
ENST00000414786.7:n.5148G>A
ENST00000445220.7:c.3616G>A	ENSP00000489407.2:p.Ala1206Thr
ENST00000664402.2:c.3106G>A	ENSP00000499475.1:p.Ala1036Thr
ENST00000673971.2:c.*3562G>A	ENSP00000501192.1:n.*3562G>A
ENST00000445220.6:c.3616G>A	ENSP00000489407.2:p.Ala1206Thr
ENST00000262795.6:c.4564G>A	ENSP00000489147.2:p.Ala1522Thr
ENST00000659388.1:c.379G>A	ENSP00000499632.1:p.Ala127Thr
ENST00000664402.1:c.3106G>A	ENSP00000499475.1:p.Ala1036Thr
ENST00000673971.1:c.*3562G>A	ENSP00000501192.1:n.*3562G>A
ENST00000262795.5:c.4933G>A	ENSP00000489147.1:p.Ala1645Thr
ENST00000414786.6:n.5148G>A
ENST00000445220.5:c.4915G>A	ENSP00000489407.1:p.Ala1639Thr