Canonical Allele Identifier: CA515260293

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159217T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720789T>G , CM000684.2:g.50720789T>G	GRCh38
NC_000022.10:g.51159217T>G , CM000684.1:g.51159217T>G	GRCh37
NC_000022.9:g.49506083T>G	NCBI36
NG_008607.2:g.51435T>G
NG_070230.1:g.56573T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2557T>G	ENSP00000489147.2:p.Ser853Ala
ENST00000414786.7:n.3141T>G
ENST00000445220.7:c.1609T>G	ENSP00000489407.2:p.Ser537Ala
ENST00000664402.2:c.1099T>G	ENSP00000499475.1:p.Ser367Ala
ENST00000673971.2:c.*1555T>G	ENSP00000501192.1:n.*1555T>G
ENST00000445220.6:c.1609T>G	ENSP00000489407.2:p.Ser537Ala
ENST00000262795.6:c.2557T>G	ENSP00000489147.2:p.Ser853Ala
ENST00000664402.1:c.1099T>G	ENSP00000499475.1:p.Ser367Ala
ENST00000673971.1:c.*1555T>G	ENSP00000501192.1:n.*1555T>G
ENST00000262795.5:c.2953T>G	ENSP00000489147.1:p.Ser985Ala
ENST00000414786.6:n.3141T>G
ENST00000445220.5:c.2935T>G	ENSP00000489407.1:p.Ser979Ala