Canonical Allele Identifier: CA515262161

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721366-A-G
• MyVariant Identifiers: chr22:g.51159794A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721366A>G , CM000684.2:g.50721366A>G	GRCh38
NC_000022.10:g.51159794A>G , CM000684.1:g.51159794A>G	GRCh37
NC_000022.9:g.49506660A>G	NCBI36
NG_008607.2:g.52012A>G
NG_070230.1:g.57150A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3134A>G	ENSP00000489147.2:p.Glu1045Gly
ENST00000414786.7:n.3718A>G
ENST00000445220.7:c.2186A>G	ENSP00000489407.2:p.Glu729Gly
ENST00000664402.2:c.1676A>G	ENSP00000499475.1:p.Glu559Gly
ENST00000673971.2:c.*2132A>G	ENSP00000501192.1:n.*2132A>G
ENST00000445220.6:c.2186A>G	ENSP00000489407.2:p.Glu729Gly
ENST00000262795.6:c.3134A>G	ENSP00000489147.2:p.Glu1045Gly
ENST00000664402.1:c.1676A>G	ENSP00000499475.1:p.Glu559Gly
ENST00000673971.1:c.*2132A>G	ENSP00000501192.1:n.*2132A>G
ENST00000262795.5:c.3530A>G	ENSP00000489147.1:p.Glu1177Gly
ENST00000414786.6:n.3718A>G
ENST00000445220.5:c.3512A>G	ENSP00000489407.1:p.Glu1171Gly