Canonical Allele Identifier: CA515262137

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159788A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721360A>C , CM000684.2:g.50721360A>C	GRCh38
NC_000022.10:g.51159788A>C , CM000684.1:g.51159788A>C	GRCh37
NC_000022.9:g.49506654A>C	NCBI36
NG_008607.2:g.52006A>C
NG_070230.1:g.57144A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3128A>C	ENSP00000489147.2:p.Glu1043Ala
ENST00000414786.7:n.3712A>C
ENST00000445220.7:c.2180A>C	ENSP00000489407.2:p.Glu727Ala
ENST00000664402.2:c.1670A>C	ENSP00000499475.1:p.Glu557Ala
ENST00000673971.2:c.*2126A>C	ENSP00000501192.1:n.*2126A>C
ENST00000445220.6:c.2180A>C	ENSP00000489407.2:p.Glu727Ala
ENST00000262795.6:c.3128A>C	ENSP00000489147.2:p.Glu1043Ala
ENST00000664402.1:c.1670A>C	ENSP00000499475.1:p.Glu557Ala
ENST00000673971.1:c.*2126A>C	ENSP00000501192.1:n.*2126A>C
ENST00000262795.5:c.3524A>C	ENSP00000489147.1:p.Glu1175Ala
ENST00000414786.6:n.3712A>C
ENST00000445220.5:c.3506A>C	ENSP00000489407.1:p.Glu1169Ala