Canonical Allele Identifier: CA10326280

Gene: SHANK3

Linked Data

• dbSNP Id: rs764897640
• ExAC: 22:51160684 G / A
• gnomAD v2: 22-51160684-G-A
• MyVariant Identifiers: chr22:g.51160684G>A (hg19) ; chr22:g.50722256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722256G>A , CM000684.2:g.50722256G>A	GRCh38
NC_000022.10:g.51160684G>A , CM000684.1:g.51160684G>A	GRCh37
NC_000022.9:g.49507550G>A	NCBI36
NG_008607.2:g.52902G>A
NG_070230.1:g.58040G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4024G>A	ENSP00000489147.2:p.Gly1342Arg
ENST00000414786.7:n.4608G>A
ENST00000445220.7:c.3076G>A	ENSP00000489407.2:p.Gly1026Arg
ENST00000664402.2:c.2566G>A	ENSP00000499475.1:p.Gly856Arg
ENST00000673971.2:c.*3022G>A	ENSP00000501192.1:n.*3022G>A
ENST00000445220.6:c.3076G>A	ENSP00000489407.2:p.Gly1026Arg
ENST00000262795.6:c.4024G>A	ENSP00000489147.2:p.Gly1342Arg
ENST00000664402.1:c.2566G>A	ENSP00000499475.1:p.Gly856Arg
ENST00000673971.1:c.*3022G>A	ENSP00000501192.1:n.*3022G>A
ENST00000262795.5:c.4420G>A	ENSP00000489147.1:p.Gly1474Arg
ENST00000414786.6:n.4608G>A
ENST00000445220.5:c.4402G>A	ENSP00000489407.1:p.Gly1468Arg