Canonical Allele Identifier: CA515262369

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083287326
• MyVariant Identifiers: chr22:g.51159858G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721430G>A , CM000684.2:g.50721430G>A	GRCh38
NC_000022.10:g.51159858G>A , CM000684.1:g.51159858G>A	GRCh37
NC_000022.9:g.49506724G>A	NCBI36
NG_008607.2:g.52076G>A
NG_070230.1:g.57214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3198G>A	ENSP00000489147.2:p.Leu1066=
ENST00000414786.7:n.3782G>A
ENST00000445220.7:c.2250G>A	ENSP00000489407.2:p.Leu750=
ENST00000664402.2:c.1740G>A	ENSP00000499475.1:p.Leu580=
ENST00000673971.2:c.*2196G>A	ENSP00000501192.1:n.*2196G>A
ENST00000445220.6:c.2250G>A	ENSP00000489407.2:p.Leu750=
ENST00000262795.6:c.3198G>A	ENSP00000489147.2:p.Leu1066=
ENST00000664402.1:c.1740G>A	ENSP00000499475.1:p.Leu580=
ENST00000673971.1:c.*2196G>A	ENSP00000501192.1:n.*2196G>A
ENST00000262795.5:c.3594G>A	ENSP00000489147.1:p.Leu1198=
ENST00000414786.6:n.3782G>A
ENST00000445220.5:c.3576G>A	ENSP00000489407.1:p.Leu1192=