Canonical Allele Identifier: CA515263464

Gene: SHANK3

Linked Data

• dbSNP Id: rs1298442923
• gnomAD v2: 22-51160208-G-A
• gnomAD v4: 22-50721780-G-A
• MyVariant Identifiers: chr22:g.51160208G>A (hg19) ; chr22:g.50721780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721780G>A , CM000684.2:g.50721780G>A	GRCh38
NC_000022.10:g.51160208G>A , CM000684.1:g.51160208G>A	GRCh37
NC_000022.9:g.49507074G>A	NCBI36
NG_008607.2:g.52426G>A
NG_070230.1:g.57564G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3548G>A	ENSP00000489147.2:p.Gly1183Glu
ENST00000414786.7:n.4132G>A
ENST00000445220.7:c.2600G>A	ENSP00000489407.2:p.Gly867Glu
ENST00000664402.2:c.2090G>A	ENSP00000499475.1:p.Gly697Glu
ENST00000673971.2:c.*2546G>A	ENSP00000501192.1:n.*2546G>A
ENST00000445220.6:c.2600G>A	ENSP00000489407.2:p.Gly867Glu
ENST00000262795.6:c.3548G>A	ENSP00000489147.2:p.Gly1183Glu
ENST00000664402.1:c.2090G>A	ENSP00000499475.1:p.Gly697Glu
ENST00000673971.1:c.*2546G>A	ENSP00000501192.1:n.*2546G>A
ENST00000262795.5:c.3944G>A	ENSP00000489147.1:p.Gly1315Glu
ENST00000414786.6:n.4132G>A
ENST00000445220.5:c.3926G>A	ENSP00000489407.1:p.Gly1309Glu