Canonical Allele Identifier: CA515261796

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159745T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721317T>G , CM000684.2:g.50721317T>G	GRCh38
NC_000022.10:g.51159745T>G , CM000684.1:g.51159745T>G	GRCh37
NC_000022.9:g.49506611T>G	NCBI36
NG_008607.2:g.51963T>G
NG_070230.1:g.57101T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3085T>G	ENSP00000489147.2:p.Ser1029Ala
ENST00000414786.7:n.3669T>G
ENST00000445220.7:c.2137T>G	ENSP00000489407.2:p.Ser713Ala
ENST00000664402.2:c.1627T>G	ENSP00000499475.1:p.Ser543Ala
ENST00000673971.2:c.*2083T>G	ENSP00000501192.1:n.*2083T>G
ENST00000445220.6:c.2137T>G	ENSP00000489407.2:p.Ser713Ala
ENST00000262795.6:c.3085T>G	ENSP00000489147.2:p.Ser1029Ala
ENST00000664402.1:c.1627T>G	ENSP00000499475.1:p.Ser543Ala
ENST00000673971.1:c.*2083T>G	ENSP00000501192.1:n.*2083T>G
ENST00000262795.5:c.3481T>G	ENSP00000489147.1:p.Ser1161Ala
ENST00000414786.6:n.3669T>G
ENST00000445220.5:c.3463T>G	ENSP00000489407.1:p.Ser1155Ala