Canonical Allele Identifier: CA515260623

Gene: SHANK3

Linked Data

• dbSNP Id: rs1269272728
• gnomAD v4: 22-50720904-G-A
• MyVariant Identifiers: chr22:g.51159332G>A (hg19) ; chr22:g.50720904G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720904G>A , CM000684.2:g.50720904G>A	GRCh38
NC_000022.10:g.51159332G>A , CM000684.1:g.51159332G>A	GRCh37
NC_000022.9:g.49506198G>A	NCBI36
NG_008607.2:g.51550G>A
NG_070230.1:g.56688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2672G>A	ENSP00000489147.2:p.Arg891His
ENST00000414786.7:n.3256G>A
ENST00000445220.7:c.1724G>A	ENSP00000489407.2:p.Arg575His
ENST00000664402.2:c.1214G>A	ENSP00000499475.1:p.Arg405His
ENST00000673971.2:c.*1670G>A	ENSP00000501192.1:n.*1670G>A
ENST00000445220.6:c.1724G>A	ENSP00000489407.2:p.Arg575His
ENST00000262795.6:c.2672G>A	ENSP00000489147.2:p.Arg891His
ENST00000664402.1:c.1214G>A	ENSP00000499475.1:p.Arg405His
ENST00000673971.1:c.*1670G>A	ENSP00000501192.1:n.*1670G>A
ENST00000262795.5:c.3068G>A	ENSP00000489147.1:p.Arg1023His
ENST00000414786.6:n.3256G>A
ENST00000445220.5:c.3050G>A	ENSP00000489407.1:p.Arg1017His