Canonical Allele Identifier: CA515259704

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720588-A-G
• MyVariant Identifiers: chr22:g.51159016A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720588A>G , CM000684.2:g.50720588A>G	GRCh38
NC_000022.10:g.51159016A>G , CM000684.1:g.51159016A>G	GRCh37
NC_000022.9:g.49505882A>G	NCBI36
NG_008607.2:g.51234A>G
NG_070230.1:g.56372A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2356A>G	ENSP00000489147.2:p.Lys786Glu
ENST00000414786.7:n.2940A>G
ENST00000445220.7:c.1408A>G	ENSP00000489407.2:p.Lys470Glu
ENST00000664402.2:c.898A>G	ENSP00000499475.1:p.Lys300Glu
ENST00000673971.2:c.*1354A>G	ENSP00000501192.1:n.*1354A>G
ENST00000445220.6:c.1408A>G	ENSP00000489407.2:p.Lys470Glu
ENST00000262795.6:c.2356A>G	ENSP00000489147.2:p.Lys786Glu
ENST00000664402.1:c.898A>G	ENSP00000499475.1:p.Lys300Glu
ENST00000673971.1:c.*1354A>G	ENSP00000501192.1:n.*1354A>G
ENST00000262795.5:c.2752A>G	ENSP00000489147.1:p.Lys918Glu
ENST00000414786.6:n.2940A>G
ENST00000445220.5:c.2734A>G	ENSP00000489407.1:p.Lys912Glu