Canonical Allele Identifier: CA515264430

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50722100-G-T
• MyVariant Identifiers: chr22:g.51160528G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722100G>T , CM000684.2:g.50722100G>T	GRCh38
NC_000022.10:g.51160528G>T , CM000684.1:g.51160528G>T	GRCh37
NC_000022.9:g.49507394G>T	NCBI36
NG_008607.2:g.52746G>T
NG_070230.1:g.57884G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3868G>T	ENSP00000489147.2:p.Gly1290Trp
ENST00000414786.7:n.4452G>T
ENST00000445220.7:c.2920G>T	ENSP00000489407.2:p.Gly974Trp
ENST00000664402.2:c.2410G>T	ENSP00000499475.1:p.Gly804Trp
ENST00000673971.2:c.*2866G>T	ENSP00000501192.1:n.*2866G>T
ENST00000445220.6:c.2920G>T	ENSP00000489407.2:p.Gly974Trp
ENST00000262795.6:c.3868G>T	ENSP00000489147.2:p.Gly1290Trp
ENST00000664402.1:c.2410G>T	ENSP00000499475.1:p.Gly804Trp
ENST00000673971.1:c.*2866G>T	ENSP00000501192.1:n.*2866G>T
ENST00000262795.5:c.4264G>T	ENSP00000489147.1:p.Gly1422Trp
ENST00000414786.6:n.4452G>T
ENST00000445220.5:c.4246G>T	ENSP00000489407.1:p.Gly1416Trp