Canonical Allele Identifier: CA515262115

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159781C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721353C>A , CM000684.2:g.50721353C>A	GRCh38
NC_000022.10:g.51159781C>A , CM000684.1:g.51159781C>A	GRCh37
NC_000022.9:g.49506647C>A	NCBI36
NG_008607.2:g.51999C>A
NG_070230.1:g.57137C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3121C>A	ENSP00000489147.2:p.Arg1041Ser
ENST00000414786.7:n.3705C>A
ENST00000445220.7:c.2173C>A	ENSP00000489407.2:p.Arg725Ser
ENST00000664402.2:c.1663C>A	ENSP00000499475.1:p.Arg555Ser
ENST00000673971.2:c.*2119C>A	ENSP00000501192.1:n.*2119C>A
ENST00000445220.6:c.2173C>A	ENSP00000489407.2:p.Arg725Ser
ENST00000262795.6:c.3121C>A	ENSP00000489147.2:p.Arg1041Ser
ENST00000664402.1:c.1663C>A	ENSP00000499475.1:p.Arg555Ser
ENST00000673971.1:c.*2119C>A	ENSP00000501192.1:n.*2119C>A
ENST00000262795.5:c.3517C>A	ENSP00000489147.1:p.Arg1173Ser
ENST00000414786.6:n.3705C>A
ENST00000445220.5:c.3499C>A	ENSP00000489407.1:p.Arg1167Ser