Canonical Allele Identifier: CA10325989

Gene: SHANK3

Linked Data

• dbSNP Id: rs751922438
• ExAC: 22:51159505 A / G
• gnomAD v2: 22-51159505-A-G
• gnomAD v3: 22-50721077-A-G
• gnomAD v4: 22-50721077-A-G
• MyVariant Identifiers: chr22:g.51159505A>G (hg19) ; chr22:g.50721077A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721077A>G , CM000684.2:g.50721077A>G	GRCh38
NC_000022.10:g.51159505A>G , CM000684.1:g.51159505A>G	GRCh37
NC_000022.9:g.49506371A>G	NCBI36
NG_008607.2:g.51723A>G
NG_070230.1:g.56861A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2845A>G	ENSP00000489147.2:p.Ser949Gly
ENST00000414786.7:n.3429A>G
ENST00000445220.7:c.1897A>G	ENSP00000489407.2:p.Ser633Gly
ENST00000664402.2:c.1387A>G	ENSP00000499475.1:p.Ser463Gly
ENST00000673971.2:c.*1843A>G	ENSP00000501192.1:n.*1843A>G
ENST00000445220.6:c.1897A>G	ENSP00000489407.2:p.Ser633Gly
ENST00000262795.6:c.2845A>G	ENSP00000489147.2:p.Ser949Gly
ENST00000664402.1:c.1387A>G	ENSP00000499475.1:p.Ser463Gly
ENST00000673971.1:c.*1843A>G	ENSP00000501192.1:n.*1843A>G
ENST00000262795.5:c.3241A>G	ENSP00000489147.1:p.Ser1081Gly
ENST00000414786.6:n.3429A>G
ENST00000445220.5:c.3223A>G	ENSP00000489407.1:p.Ser1075Gly