Canonical Allele Identifier: CA515259724

Gene: SHANK3

Linked Data

• dbSNP Id: rs1419912081
• gnomAD v3: 22-50720595-G-A
• gnomAD v4: 22-50720595-G-A
• MyVariant Identifiers: chr22:g.51159023G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720595G>A , CM000684.2:g.50720595G>A	GRCh38
NC_000022.10:g.51159023G>A , CM000684.1:g.51159023G>A	GRCh37
NC_000022.9:g.49505889G>A	NCBI36
NG_008607.2:g.51241G>A
NG_070230.1:g.56379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2363G>A	ENSP00000489147.2:p.Arg788Gln
ENST00000414786.7:n.2947G>A
ENST00000445220.7:c.1415G>A	ENSP00000489407.2:p.Arg472Gln
ENST00000664402.2:c.905G>A	ENSP00000499475.1:p.Arg302Gln
ENST00000673971.2:c.*1361G>A	ENSP00000501192.1:n.*1361G>A
ENST00000445220.6:c.1415G>A	ENSP00000489407.2:p.Arg472Gln
ENST00000262795.6:c.2363G>A	ENSP00000489147.2:p.Arg788Gln
ENST00000664402.1:c.905G>A	ENSP00000499475.1:p.Arg302Gln
ENST00000673971.1:c.*1361G>A	ENSP00000501192.1:n.*1361G>A
ENST00000262795.5:c.2759G>A	ENSP00000489147.1:p.Arg920Gln
ENST00000414786.6:n.2947G>A
ENST00000445220.5:c.2741G>A	ENSP00000489407.1:p.Arg914Gln