Canonical Allele Identifier: CA10325935

Gene: SHANK3

Linked Data

• dbSNP Id: rs746166876
• ExAC: 22:51159124 G / A
• gnomAD v2: 22-51159124-G-A
• gnomAD v4: 22-50720696-G-A
• MyVariant Identifiers: chr22:g.51159124G>A (hg19) ; chr22:g.50720696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720696G>A , CM000684.2:g.50720696G>A	GRCh38
NC_000022.10:g.51159124G>A , CM000684.1:g.51159124G>A	GRCh37
NC_000022.9:g.49505990G>A	NCBI36
NG_008607.2:g.51342G>A
NG_070230.1:g.56480G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2464G>A	ENSP00000489147.2:p.Val822Met
ENST00000414786.7:n.3048G>A
ENST00000445220.7:c.1516G>A	ENSP00000489407.2:p.Val506Met
ENST00000664402.2:c.1006G>A	ENSP00000499475.1:p.Val336Met
ENST00000673971.2:c.*1462G>A	ENSP00000501192.1:n.*1462G>A
ENST00000445220.6:c.1516G>A	ENSP00000489407.2:p.Val506Met
ENST00000262795.6:c.2464G>A	ENSP00000489147.2:p.Val822Met
ENST00000664402.1:c.1006G>A	ENSP00000499475.1:p.Val336Met
ENST00000673971.1:c.*1462G>A	ENSP00000501192.1:n.*1462G>A
ENST00000262795.5:c.2860G>A	ENSP00000489147.1:p.Val954Met
ENST00000414786.6:n.3048G>A
ENST00000445220.5:c.2842G>A	ENSP00000489407.1:p.Val948Met