Canonical Allele Identifier: CA10325974

Gene: SHANK3

Linked Data

• dbSNP Id: rs781290072
• ExAC: 22:51159442 G / A
• gnomAD v2: 22-51159442-G-A
• gnomAD v4: 22-50721014-G-A
• MyVariant Identifiers: chr22:g.51159442G>A (hg19) ; chr22:g.50721014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721014G>A , CM000684.2:g.50721014G>A	GRCh38
NC_000022.10:g.51159442G>A , CM000684.1:g.51159442G>A	GRCh37
NC_000022.9:g.49506308G>A	NCBI36
NG_008607.2:g.51660G>A
NG_070230.1:g.56798G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2782G>A	ENSP00000489147.2:p.Gly928Ser
ENST00000414786.7:n.3366G>A
ENST00000445220.7:c.1834G>A	ENSP00000489407.2:p.Gly612Ser
ENST00000664402.2:c.1324G>A	ENSP00000499475.1:p.Gly442Ser
ENST00000673971.2:c.*1780G>A	ENSP00000501192.1:n.*1780G>A
ENST00000445220.6:c.1834G>A	ENSP00000489407.2:p.Gly612Ser
ENST00000262795.6:c.2782G>A	ENSP00000489147.2:p.Gly928Ser
ENST00000664402.1:c.1324G>A	ENSP00000499475.1:p.Gly442Ser
ENST00000673971.1:c.*1780G>A	ENSP00000501192.1:n.*1780G>A
ENST00000262795.5:c.3178G>A	ENSP00000489147.1:p.Gly1060Ser
ENST00000414786.6:n.3366G>A
ENST00000445220.5:c.3160G>A	ENSP00000489407.1:p.Gly1054Ser