Canonical Allele Identifier: CA515260104

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083277374
• gnomAD v3: 22-50720723-C-A
• gnomAD v4: 22-50720723-C-A
• MyVariant Identifiers: chr22:g.51159151C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720723C>A , CM000684.2:g.50720723C>A	GRCh38
NC_000022.10:g.51159151C>A , CM000684.1:g.51159151C>A	GRCh37
NC_000022.9:g.49506017C>A	NCBI36
NG_008607.2:g.51369C>A
NG_070230.1:g.56507C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2491C>A	ENSP00000489147.2:p.Gln831Lys
ENST00000414786.7:n.3075C>A
ENST00000445220.7:c.1543C>A	ENSP00000489407.2:p.Gln515Lys
ENST00000664402.2:c.1033C>A	ENSP00000499475.1:p.Gln345Lys
ENST00000673971.2:c.*1489C>A	ENSP00000501192.1:n.*1489C>A
ENST00000445220.6:c.1543C>A	ENSP00000489407.2:p.Gln515Lys
ENST00000262795.6:c.2491C>A	ENSP00000489147.2:p.Gln831Lys
ENST00000664402.1:c.1033C>A	ENSP00000499475.1:p.Gln345Lys
ENST00000673971.1:c.*1489C>A	ENSP00000501192.1:n.*1489C>A
ENST00000262795.5:c.2887C>A	ENSP00000489147.1:p.Gln963Lys
ENST00000414786.6:n.3075C>A
ENST00000445220.5:c.2869C>A	ENSP00000489407.1:p.Gln957Lys