Canonical Allele Identifier: CA515261170

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159533C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721105C>G , CM000684.2:g.50721105C>G	GRCh38
NC_000022.10:g.51159533C>G , CM000684.1:g.51159533C>G	GRCh37
NC_000022.9:g.49506399C>G	NCBI36
NG_008607.2:g.51751C>G
NG_070230.1:g.56889C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2873C>G	ENSP00000489147.2:p.Ser958Cys
ENST00000414786.7:n.3457C>G
ENST00000445220.7:c.1925C>G	ENSP00000489407.2:p.Ser642Cys
ENST00000664402.2:c.1415C>G	ENSP00000499475.1:p.Ser472Cys
ENST00000673971.2:c.*1871C>G	ENSP00000501192.1:n.*1871C>G
ENST00000445220.6:c.1925C>G	ENSP00000489407.2:p.Ser642Cys
ENST00000262795.6:c.2873C>G	ENSP00000489147.2:p.Ser958Cys
ENST00000664402.1:c.1415C>G	ENSP00000499475.1:p.Ser472Cys
ENST00000673971.1:c.*1871C>G	ENSP00000501192.1:n.*1871C>G
ENST00000262795.5:c.3269C>G	ENSP00000489147.1:p.Ser1090Cys
ENST00000414786.6:n.3457C>G
ENST00000445220.5:c.3251C>G	ENSP00000489407.1:p.Ser1084Cys