Canonical Allele Identifier: CA515264022

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160382G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721954G>A , CM000684.2:g.50721954G>A	GRCh38
NC_000022.10:g.51160382G>A , CM000684.1:g.51160382G>A	GRCh37
NC_000022.9:g.49507248G>A	NCBI36
NG_008607.2:g.52600G>A
NG_070230.1:g.57738G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3722G>A	ENSP00000489147.2:p.Ser1241Asn
ENST00000414786.7:n.4306G>A
ENST00000445220.7:c.2774G>A	ENSP00000489407.2:p.Ser925Asn
ENST00000664402.2:c.2264G>A	ENSP00000499475.1:p.Ser755Asn
ENST00000673971.2:c.*2720G>A	ENSP00000501192.1:n.*2720G>A
ENST00000445220.6:c.2774G>A	ENSP00000489407.2:p.Ser925Asn
ENST00000262795.6:c.3722G>A	ENSP00000489147.2:p.Ser1241Asn
ENST00000664402.1:c.2264G>A	ENSP00000499475.1:p.Ser755Asn
ENST00000673971.1:c.*2720G>A	ENSP00000501192.1:n.*2720G>A
ENST00000262795.5:c.4118G>A	ENSP00000489147.1:p.Ser1373Asn
ENST00000414786.6:n.4306G>A
ENST00000445220.5:c.4100G>A	ENSP00000489407.1:p.Ser1367Asn