Canonical Allele Identifier: CA515255150

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083091804
• gnomAD v4: 22-50697671-A-G
• MyVariant Identifiers: chr22:g.51136099A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697671A>G , CM000684.2:g.50697671A>G	GRCh38
NC_000022.10:g.51136099A>G , CM000684.1:g.51136099A>G	GRCh37
NC_000022.9:g.49482965A>G	NCBI36
NG_008607.2:g.28317A>G
NG_070230.1:g.33536A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1055A>G	ENSP00000489147.2:p.Gln352Arg
ENST00000414786.7:n.1639A>G
ENST00000445220.7:c.107A>G	ENSP00000489407.2:p.Gln36Arg
ENST00000673971.2:c.1412A>G	ENSP00000501192.1:p.Gln471Arg
ENST00000445220.6:c.107A>G	ENSP00000489407.2:p.Gln36Arg
ENST00000262795.6:c.1055A>G	ENSP00000489147.2:p.Gln352Arg
ENST00000673971.1:c.1412A>G	ENSP00000501192.1:p.Gln471Arg
ENST00000673995.1:c.108A>G
ENST00000262795.5:c.1451A>G	ENSP00000489147.1:p.Gln484Arg
ENST00000414786.6:n.1639A>G
ENST00000445220.5:c.1433A>G	ENSP00000489407.1:p.Gln478Arg