Canonical Allele Identifier: CA10326044

Gene: SHANK3

Linked Data

• dbSNP Id: rs764295916
• ExAC: 22:51159738 G / A
• gnomAD v2: 22-51159738-G-A
• gnomAD v3: 22-50721310-G-A
• gnomAD v4: 22-50721310-G-A
• MyVariant Identifiers: chr22:g.51159738G>A (hg19) ; chr22:g.50721310G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721310G>A , CM000684.2:g.50721310G>A	GRCh38
NC_000022.10:g.51159738G>A , CM000684.1:g.51159738G>A	GRCh37
NC_000022.9:g.49506604G>A	NCBI36
NG_008607.2:g.51956G>A
NG_070230.1:g.57094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3078G>A	ENSP00000489147.2:p.Pro1026=
ENST00000414786.7:n.3662G>A
ENST00000445220.7:c.2130G>A	ENSP00000489407.2:p.Pro710=
ENST00000664402.2:c.1620G>A	ENSP00000499475.1:p.Pro540=
ENST00000673971.2:c.*2076G>A	ENSP00000501192.1:n.*2076G>A
ENST00000445220.6:c.2130G>A	ENSP00000489407.2:p.Pro710=
ENST00000262795.6:c.3078G>A	ENSP00000489147.2:p.Pro1026=
ENST00000664402.1:c.1620G>A	ENSP00000499475.1:p.Pro540=
ENST00000673971.1:c.*2076G>A	ENSP00000501192.1:n.*2076G>A
ENST00000262795.5:c.3474G>A	ENSP00000489147.1:p.Pro1158=
ENST00000414786.6:n.3662G>A
ENST00000445220.5:c.3456G>A	ENSP00000489407.1:p.Pro1152=