Canonical Allele Identifier: CA515266940

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50730949-G-A
• MyVariant Identifiers: chr22:g.51169377G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730949G>A , CM000684.2:g.50730949G>A	GRCh38
NC_000022.10:g.51169377G>A , CM000684.1:g.51169377G>A	GRCh37
NC_000022.9:g.49516243G>A	NCBI36
NG_008607.2:g.61595G>A
NG_070230.1:g.66733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4461G>A	ENSP00000489147.2:p.Ser1487=
ENST00000414786.7:n.5045G>A
ENST00000445220.7:c.3513G>A	ENSP00000489407.2:p.Ser1171=
ENST00000664402.2:c.3003G>A	ENSP00000499475.1:p.Ser1001=
ENST00000673971.2:c.*3459G>A	ENSP00000501192.1:n.*3459G>A
ENST00000445220.6:c.3513G>A	ENSP00000489407.2:p.Ser1171=
ENST00000262795.6:c.4461G>A	ENSP00000489147.2:p.Ser1487=
ENST00000659388.1:c.276G>A	ENSP00000499632.1:p.Ser92=
ENST00000664402.1:c.3003G>A	ENSP00000499475.1:p.Ser1001=
ENST00000673971.1:c.*3459G>A	ENSP00000501192.1:n.*3459G>A
ENST00000262795.5:c.4830G>A	ENSP00000489147.1:p.Ser1610=
ENST00000414786.6:n.5045G>A
ENST00000445220.5:c.4812G>A	ENSP00000489407.1:p.Ser1604=