Canonical Allele Identifier: CA515260877

Gene: SHANK3

Linked Data

• dbSNP Id: rs375916606
• gnomAD v2: 22-51159423-C-G
• gnomAD v3: 22-50720995-C-G
• gnomAD v4: 22-50720995-C-G
• MyVariant Identifiers: chr22:g.51159423C>G (hg19) ; chr22:g.50720995C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720995C>G , CM000684.2:g.50720995C>G	GRCh38
NC_000022.10:g.51159423C>G , CM000684.1:g.51159423C>G	GRCh37
NC_000022.9:g.49506289C>G	NCBI36
NG_008607.2:g.51641C>G
NG_070230.1:g.56779C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2763C>G	ENSP00000489147.2:p.Asp921Glu
ENST00000414786.7:n.3347C>G
ENST00000445220.7:c.1815C>G	ENSP00000489407.2:p.Asp605Glu
ENST00000664402.2:c.1305C>G	ENSP00000499475.1:p.Asp435Glu
ENST00000673971.2:c.*1761C>G	ENSP00000501192.1:n.*1761C>G
ENST00000445220.6:c.1815C>G	ENSP00000489407.2:p.Asp605Glu
ENST00000262795.6:c.2763C>G	ENSP00000489147.2:p.Asp921Glu
ENST00000664402.1:c.1305C>G	ENSP00000499475.1:p.Asp435Glu
ENST00000673971.1:c.*1761C>G	ENSP00000501192.1:n.*1761C>G
ENST00000262795.5:c.3159C>G	ENSP00000489147.1:p.Asp1053Glu
ENST00000414786.6:n.3347C>G
ENST00000445220.5:c.3141C>G	ENSP00000489407.1:p.Asp1047Glu