Canonical Allele Identifier: CA515261859

Gene: SHANK3

Linked Data

• dbSNP Id: rs767587056
• gnomAD v2: 22-51159762-C-G
• gnomAD v3: 22-50721334-C-G
• gnomAD v4: 22-50721334-C-G
• MyVariant Identifiers: chr22:g.51159762C>G (hg19) ; chr22:g.50721334C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721334C>G , CM000684.2:g.50721334C>G	GRCh38
NC_000022.10:g.51159762C>G , CM000684.1:g.51159762C>G	GRCh37
NC_000022.9:g.49506628C>G	NCBI36
NG_008607.2:g.51980C>G
NG_070230.1:g.57118C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3102C>G	ENSP00000489147.2:p.Ala1034=
ENST00000414786.7:n.3686C>G
ENST00000445220.7:c.2154C>G	ENSP00000489407.2:p.Ala718=
ENST00000664402.2:c.1644C>G	ENSP00000499475.1:p.Ala548=
ENST00000673971.2:c.*2100C>G	ENSP00000501192.1:n.*2100C>G
ENST00000445220.6:c.2154C>G	ENSP00000489407.2:p.Ala718=
ENST00000262795.6:c.3102C>G	ENSP00000489147.2:p.Ala1034=
ENST00000664402.1:c.1644C>G	ENSP00000499475.1:p.Ala548=
ENST00000673971.1:c.*2100C>G	ENSP00000501192.1:n.*2100C>G
ENST00000262795.5:c.3498C>G	ENSP00000489147.1:p.Ala1166=
ENST00000414786.6:n.3686C>G
ENST00000445220.5:c.3480C>G	ENSP00000489407.1:p.Ala1160=