Canonical Allele Identifier: CA515264002

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160375A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721947A>G , CM000684.2:g.50721947A>G	GRCh38
NC_000022.10:g.51160375A>G , CM000684.1:g.51160375A>G	GRCh37
NC_000022.9:g.49507241A>G	NCBI36
NG_008607.2:g.52593A>G
NG_070230.1:g.57731A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3715A>G	ENSP00000489147.2:p.Thr1239Ala
ENST00000414786.7:n.4299A>G
ENST00000445220.7:c.2767A>G	ENSP00000489407.2:p.Thr923Ala
ENST00000664402.2:c.2257A>G	ENSP00000499475.1:p.Thr753Ala
ENST00000673971.2:c.*2713A>G	ENSP00000501192.1:n.*2713A>G
ENST00000445220.6:c.2767A>G	ENSP00000489407.2:p.Thr923Ala
ENST00000262795.6:c.3715A>G	ENSP00000489147.2:p.Thr1239Ala
ENST00000664402.1:c.2257A>G	ENSP00000499475.1:p.Thr753Ala
ENST00000673971.1:c.*2713A>G	ENSP00000501192.1:n.*2713A>G
ENST00000262795.5:c.4111A>G	ENSP00000489147.1:p.Thr1371Ala
ENST00000414786.6:n.4299A>G
ENST00000445220.5:c.4093A>G	ENSP00000489407.1:p.Thr1365Ala