Canonical Allele Identifier: CA515263070

Gene: SHANK3

Linked Data

• dbSNP Id: rs1467841346
• gnomAD v2: 22-51160067-G-A
• gnomAD v4: 22-50721639-G-A
• MyVariant Identifiers: chr22:g.51160067G>A (hg19) ; chr22:g.50721639G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721639G>A , CM000684.2:g.50721639G>A	GRCh38
NC_000022.10:g.51160067G>A , CM000684.1:g.51160067G>A	GRCh37
NC_000022.9:g.49506933G>A	NCBI36
NG_008607.2:g.52285G>A
NG_070230.1:g.57423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3407G>A	ENSP00000489147.2:p.Gly1136Asp
ENST00000414786.7:n.3991G>A
ENST00000445220.7:c.2459G>A	ENSP00000489407.2:p.Gly820Asp
ENST00000664402.2:c.1949G>A	ENSP00000499475.1:p.Gly650Asp
ENST00000673971.2:c.*2405G>A	ENSP00000501192.1:n.*2405G>A
ENST00000445220.6:c.2459G>A	ENSP00000489407.2:p.Gly820Asp
ENST00000262795.6:c.3407G>A	ENSP00000489147.2:p.Gly1136Asp
ENST00000664402.1:c.1949G>A	ENSP00000499475.1:p.Gly650Asp
ENST00000673971.1:c.*2405G>A	ENSP00000501192.1:n.*2405G>A
ENST00000262795.5:c.3803G>A	ENSP00000489147.1:p.Gly1268Asp
ENST00000414786.6:n.3991G>A
ENST00000445220.5:c.3785G>A	ENSP00000489407.1:p.Gly1262Asp