Canonical Allele Identifier: CA515260123

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720729-C-G
• MyVariant Identifiers: chr22:g.51159157C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720729C>G , CM000684.2:g.50720729C>G	GRCh38
NC_000022.10:g.51159157C>G , CM000684.1:g.51159157C>G	GRCh37
NC_000022.9:g.49506023C>G	NCBI36
NG_008607.2:g.51375C>G
NG_070230.1:g.56513C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2497C>G	ENSP00000489147.2:p.Arg833Gly
ENST00000414786.7:n.3081C>G
ENST00000445220.7:c.1549C>G	ENSP00000489407.2:p.Arg517Gly
ENST00000664402.2:c.1039C>G	ENSP00000499475.1:p.Arg347Gly
ENST00000673971.2:c.*1495C>G	ENSP00000501192.1:n.*1495C>G
ENST00000445220.6:c.1549C>G	ENSP00000489407.2:p.Arg517Gly
ENST00000262795.6:c.2497C>G	ENSP00000489147.2:p.Arg833Gly
ENST00000664402.1:c.1039C>G	ENSP00000499475.1:p.Arg347Gly
ENST00000673971.1:c.*1495C>G	ENSP00000501192.1:n.*1495C>G
ENST00000262795.5:c.2893C>G	ENSP00000489147.1:p.Arg965Gly
ENST00000414786.6:n.3081C>G
ENST00000445220.5:c.2875C>G	ENSP00000489407.1:p.Arg959Gly