Canonical Allele Identifier: CA515263551

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2442787
• ClinVar RCV Id: RCV003149559
• MyVariant Identifiers: chr22:g.51160234G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721806G>A , CM000684.2:g.50721806G>A	GRCh38
NC_000022.10:g.51160234G>A , CM000684.1:g.51160234G>A	GRCh37
NC_000022.9:g.49507100G>A	NCBI36
NG_008607.2:g.52452G>A
NG_070230.1:g.57590G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3574G>A	ENSP00000489147.2:p.Gly1192Ser
ENST00000414786.7:n.4158G>A
ENST00000445220.7:c.2626G>A	ENSP00000489407.2:p.Gly876Ser
ENST00000664402.2:c.2116G>A	ENSP00000499475.1:p.Gly706Ser
ENST00000673971.2:c.*2572G>A	ENSP00000501192.1:n.*2572G>A
ENST00000445220.6:c.2626G>A	ENSP00000489407.2:p.Gly876Ser
ENST00000262795.6:c.3574G>A	ENSP00000489147.2:p.Gly1192Ser
ENST00000664402.1:c.2116G>A	ENSP00000499475.1:p.Gly706Ser
ENST00000673971.1:c.*2572G>A	ENSP00000501192.1:n.*2572G>A
ENST00000262795.5:c.3970G>A	ENSP00000489147.1:p.Gly1324Ser
ENST00000414786.6:n.4158G>A
ENST00000445220.5:c.3952G>A	ENSP00000489407.1:p.Gly1318Ser