Canonical Allele Identifier: CA515264874

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1305662
• ClinVar RCV Id: RCV001768869
• dbSNP Id: rs2146833546
• MyVariant Identifiers: chr22:g.51160670G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722242G>A , CM000684.2:g.50722242G>A	GRCh38
NC_000022.10:g.51160670G>A , CM000684.1:g.51160670G>A	GRCh37
NC_000022.9:g.49507536G>A	NCBI36
NG_008607.2:g.52888G>A
NG_070230.1:g.58026G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.4010G>A	ENSP00000489147.2:p.Arg1337Lys
ENST00000414786.7:n.4594G>A
ENST00000445220.7:c.3062G>A	ENSP00000489407.2:p.Arg1021Lys
ENST00000664402.2:c.2552G>A	ENSP00000499475.1:p.Arg851Lys
ENST00000673971.2:c.*3008G>A	ENSP00000501192.1:n.*3008G>A
ENST00000445220.6:c.3062G>A	ENSP00000489407.2:p.Arg1021Lys
ENST00000262795.6:c.4010G>A	ENSP00000489147.2:p.Arg1337Lys
ENST00000664402.1:c.2552G>A	ENSP00000499475.1:p.Arg851Lys
ENST00000673971.1:c.*3008G>A	ENSP00000501192.1:n.*3008G>A
ENST00000262795.5:c.4406G>A	ENSP00000489147.1:p.Arg1469Lys
ENST00000414786.6:n.4594G>A
ENST00000445220.5:c.4388G>A	ENSP00000489407.1:p.Arg1463Lys