Canonical Allele Identifier: CA515263685

Gene: SHANK3

Linked Data

• dbSNP Id: rs1425244073
• gnomAD v2: 22-51160278-G-A
• gnomAD v4: 22-50721850-G-A
• MyVariant Identifiers: chr22:g.51160278G>A (hg19) ; chr22:g.50721850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721850G>A , CM000684.2:g.50721850G>A	GRCh38
NC_000022.10:g.51160278G>A , CM000684.1:g.51160278G>A	GRCh37
NC_000022.9:g.49507144G>A	NCBI36
NG_008607.2:g.52496G>A
NG_070230.1:g.57634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3618G>A	ENSP00000489147.2:p.Gly1206=
ENST00000414786.7:n.4202G>A
ENST00000445220.7:c.2670G>A	ENSP00000489407.2:p.Gly890=
ENST00000664402.2:c.2160G>A	ENSP00000499475.1:p.Gly720=
ENST00000673971.2:c.*2616G>A	ENSP00000501192.1:n.*2616G>A
ENST00000445220.6:c.2670G>A	ENSP00000489407.2:p.Gly890=
ENST00000262795.6:c.3618G>A	ENSP00000489147.2:p.Gly1206=
ENST00000664402.1:c.2160G>A	ENSP00000499475.1:p.Gly720=
ENST00000673971.1:c.*2616G>A	ENSP00000501192.1:n.*2616G>A
ENST00000262795.5:c.4014G>A	ENSP00000489147.1:p.Gly1338=
ENST00000414786.6:n.4202G>A
ENST00000445220.5:c.3996G>A	ENSP00000489407.1:p.Gly1332=