Canonical Allele Identifier: CA515260945

Gene: SHANK3

Linked Data

• dbSNP Id: rs1303827746
• gnomAD v2: 22-51159451-G-A
• gnomAD v4: 22-50721023-G-A
• MyVariant Identifiers: chr22:g.51159451G>A (hg19) ; chr22:g.50721023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721023G>A , CM000684.2:g.50721023G>A	GRCh38
NC_000022.10:g.51159451G>A , CM000684.1:g.51159451G>A	GRCh37
NC_000022.9:g.49506317G>A	NCBI36
NG_008607.2:g.51669G>A
NG_070230.1:g.56807G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2791G>A	ENSP00000489147.2:p.Ala931Thr
ENST00000414786.7:n.3375G>A
ENST00000445220.7:c.1843G>A	ENSP00000489407.2:p.Ala615Thr
ENST00000664402.2:c.1333G>A	ENSP00000499475.1:p.Ala445Thr
ENST00000673971.2:c.*1789G>A	ENSP00000501192.1:n.*1789G>A
ENST00000445220.6:c.1843G>A	ENSP00000489407.2:p.Ala615Thr
ENST00000262795.6:c.2791G>A	ENSP00000489147.2:p.Ala931Thr
ENST00000664402.1:c.1333G>A	ENSP00000499475.1:p.Ala445Thr
ENST00000673971.1:c.*1789G>A	ENSP00000501192.1:n.*1789G>A
ENST00000262795.5:c.3187G>A	ENSP00000489147.1:p.Ala1063Thr
ENST00000414786.6:n.3375G>A
ENST00000445220.5:c.3169G>A	ENSP00000489407.1:p.Ala1057Thr