Canonical Allele Identifier: CA325578167

Gene: SHANK3

Linked Data

• dbSNP Id: rs922625356
• gnomAD v3: 22-50720585-C-A
• gnomAD v4: 22-50720585-C-A
• MyVariant Identifiers: chr22:g.51159013C>A (hg19) ; chr22:g.50720585C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720585C>A , CM000684.2:g.50720585C>A	GRCh38
NC_000022.10:g.51159013C>A , CM000684.1:g.51159013C>A	GRCh37
NC_000022.9:g.49505879C>A	NCBI36
NG_008607.2:g.51231C>A
NG_070230.1:g.56369C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2353C>A	ENSP00000489147.2:p.Pro785Thr
ENST00000414786.7:n.2937C>A
ENST00000445220.7:c.1405C>A	ENSP00000489407.2:p.Pro469Thr
ENST00000664402.2:c.895C>A	ENSP00000499475.1:p.Pro299Thr
ENST00000673971.2:c.*1351C>A	ENSP00000501192.1:n.*1351C>A
ENST00000445220.6:c.1405C>A	ENSP00000489407.2:p.Pro469Thr
ENST00000262795.6:c.2353C>A	ENSP00000489147.2:p.Pro785Thr
ENST00000664402.1:c.895C>A	ENSP00000499475.1:p.Pro299Thr
ENST00000673971.1:c.*1351C>A	ENSP00000501192.1:n.*1351C>A
ENST00000262795.5:c.2749C>A	ENSP00000489147.1:p.Pro917Thr
ENST00000414786.6:n.2937C>A
ENST00000445220.5:c.2731C>A	ENSP00000489407.1:p.Pro911Thr