Canonical Allele Identifier: CA325579305

Gene: SHANK3

Linked Data

• dbSNP Id: rs757236411
• gnomAD v4: 22-50721490-G-A
• MyVariant Identifiers: chr22:g.51159918G>A (hg19) ; chr22:g.50721490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721490G>A , CM000684.2:g.50721490G>A	GRCh38
NC_000022.10:g.51159918G>A , CM000684.1:g.51159918G>A	GRCh37
NC_000022.9:g.49506784G>A	NCBI36
NG_008607.2:g.52136G>A
NG_070230.1:g.57274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3258G>A	ENSP00000489147.2:p.Gln1086=
ENST00000414786.7:n.3842G>A
ENST00000445220.7:c.2310G>A	ENSP00000489407.2:p.Gln770=
ENST00000664402.2:c.1800G>A	ENSP00000499475.1:p.Gln600=
ENST00000673971.2:c.*2256G>A	ENSP00000501192.1:n.*2256G>A
ENST00000445220.6:c.2310G>A	ENSP00000489407.2:p.Gln770=
ENST00000262795.6:c.3258G>A	ENSP00000489147.2:p.Gln1086=
ENST00000664402.1:c.1800G>A	ENSP00000499475.1:p.Gln600=
ENST00000673971.1:c.*2256G>A	ENSP00000501192.1:n.*2256G>A
ENST00000262795.5:c.3654G>A	ENSP00000489147.1:p.Gln1218=
ENST00000414786.6:n.3842G>A
ENST00000445220.5:c.3636G>A	ENSP00000489407.1:p.Gln1212=