Canonical Allele Identifier: CA515261791

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159743T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721315T>G , CM000684.2:g.50721315T>G	GRCh38
NC_000022.10:g.51159743T>G , CM000684.1:g.51159743T>G	GRCh37
NC_000022.9:g.49506609T>G	NCBI36
NG_008607.2:g.51961T>G
NG_070230.1:g.57099T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3083T>G	ENSP00000489147.2:p.Phe1028Cys
ENST00000414786.7:n.3667T>G
ENST00000445220.7:c.2135T>G	ENSP00000489407.2:p.Phe712Cys
ENST00000664402.2:c.1625T>G	ENSP00000499475.1:p.Phe542Cys
ENST00000673971.2:c.*2081T>G	ENSP00000501192.1:n.*2081T>G
ENST00000445220.6:c.2135T>G	ENSP00000489407.2:p.Phe712Cys
ENST00000262795.6:c.3083T>G	ENSP00000489147.2:p.Phe1028Cys
ENST00000664402.1:c.1625T>G	ENSP00000499475.1:p.Phe542Cys
ENST00000673971.1:c.*2081T>G	ENSP00000501192.1:n.*2081T>G
ENST00000262795.5:c.3479T>G	ENSP00000489147.1:p.Phe1160Cys
ENST00000414786.6:n.3667T>G
ENST00000445220.5:c.3461T>G	ENSP00000489407.1:p.Phe1154Cys