Canonical Allele Identifier: CA515260724

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720940-A-G
• MyVariant Identifiers: chr22:g.51159368A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720940A>G , CM000684.2:g.50720940A>G	GRCh38
NC_000022.10:g.51159368A>G , CM000684.1:g.51159368A>G	GRCh37
NC_000022.9:g.49506234A>G	NCBI36
NG_008607.2:g.51586A>G
NG_070230.1:g.56724A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2708A>G	ENSP00000489147.2:p.Glu903Gly
ENST00000414786.7:n.3292A>G
ENST00000445220.7:c.1760A>G	ENSP00000489407.2:p.Glu587Gly
ENST00000664402.2:c.1250A>G	ENSP00000499475.1:p.Glu417Gly
ENST00000673971.2:c.*1706A>G	ENSP00000501192.1:n.*1706A>G
ENST00000445220.6:c.1760A>G	ENSP00000489407.2:p.Glu587Gly
ENST00000262795.6:c.2708A>G	ENSP00000489147.2:p.Glu903Gly
ENST00000664402.1:c.1250A>G	ENSP00000499475.1:p.Glu417Gly
ENST00000673971.1:c.*1706A>G	ENSP00000501192.1:n.*1706A>G
ENST00000262795.5:c.3104A>G	ENSP00000489147.1:p.Glu1035Gly
ENST00000414786.6:n.3292A>G
ENST00000445220.5:c.3086A>G	ENSP00000489407.1:p.Glu1029Gly