Canonical Allele Identifier: CA515267321

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50731046-T-A
• MyVariant Identifiers: chr22:g.51169474T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731046T>A , CM000684.2:g.50731046T>A	GRCh38
NC_000022.10:g.51169474T>A , CM000684.1:g.51169474T>A	GRCh37
NC_000022.9:g.49516340T>A	NCBI36
NG_008607.2:g.61692T>A
NG_070230.1:g.66830T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4558T>A	ENSP00000489147.2:p.Ser1520Thr
ENST00000414786.7:n.5142T>A
ENST00000445220.7:c.3610T>A	ENSP00000489407.2:p.Ser1204Thr
ENST00000664402.2:c.3100T>A	ENSP00000499475.1:p.Ser1034Thr
ENST00000673971.2:c.*3556T>A	ENSP00000501192.1:n.*3556T>A
ENST00000445220.6:c.3610T>A	ENSP00000489407.2:p.Ser1204Thr
ENST00000262795.6:c.4558T>A	ENSP00000489147.2:p.Ser1520Thr
ENST00000659388.1:c.373T>A	ENSP00000499632.1:p.Ser125Thr
ENST00000664402.1:c.3100T>A	ENSP00000499475.1:p.Ser1034Thr
ENST00000673971.1:c.*3556T>A	ENSP00000501192.1:n.*3556T>A
ENST00000262795.5:c.4927T>A	ENSP00000489147.1:p.Ser1643Thr
ENST00000414786.6:n.5142T>A
ENST00000445220.5:c.4909T>A	ENSP00000489407.1:p.Ser1637Thr