Canonical Allele Identifier: CA515261746

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083285534
• gnomAD v3: 22-50721305-T-A
• gnomAD v4: 22-50721305-T-A
• MyVariant Identifiers: chr22:g.51159733T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721305T>A , CM000684.2:g.50721305T>A	GRCh38
NC_000022.10:g.51159733T>A , CM000684.1:g.51159733T>A	GRCh37
NC_000022.9:g.49506599T>A	NCBI36
NG_008607.2:g.51951T>A
NG_070230.1:g.57089T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3073T>A	ENSP00000489147.2:p.Ser1025Thr
ENST00000414786.7:n.3657T>A
ENST00000445220.7:c.2125T>A	ENSP00000489407.2:p.Ser709Thr
ENST00000664402.2:c.1615T>A	ENSP00000499475.1:p.Ser539Thr
ENST00000673971.2:c.*2071T>A	ENSP00000501192.1:n.*2071T>A
ENST00000445220.6:c.2125T>A	ENSP00000489407.2:p.Ser709Thr
ENST00000262795.6:c.3073T>A	ENSP00000489147.2:p.Ser1025Thr
ENST00000664402.1:c.1615T>A	ENSP00000499475.1:p.Ser539Thr
ENST00000673971.1:c.*2071T>A	ENSP00000501192.1:n.*2071T>A
ENST00000262795.5:c.3469T>A	ENSP00000489147.1:p.Ser1157Thr
ENST00000414786.6:n.3657T>A
ENST00000445220.5:c.3451T>A	ENSP00000489407.1:p.Ser1151Thr