Canonical Allele Identifier: CA515255259

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697708-C-G
• MyVariant Identifiers: chr22:g.51136136C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697708C>G , CM000684.2:g.50697708C>G	GRCh38
NC_000022.10:g.51136136C>G , CM000684.1:g.51136136C>G	GRCh37
NC_000022.9:g.49483002C>G	NCBI36
NG_008607.2:g.28354C>G
NG_070230.1:g.33573C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1092C>G	ENSP00000489147.2:p.Ala364=
ENST00000414786.7:n.1676C>G
ENST00000445220.7:c.144C>G	ENSP00000489407.2:p.Ala48=
ENST00000673971.2:c.1449C>G	ENSP00000501192.1:p.Ala483=
ENST00000445220.6:c.144C>G	ENSP00000489407.2:p.Ala48=
ENST00000262795.6:c.1092C>G	ENSP00000489147.2:p.Ala364=
ENST00000673971.1:c.1449C>G	ENSP00000501192.1:p.Ala483=
ENST00000673995.1:c.145C>G
ENST00000262795.5:c.1488C>G	ENSP00000489147.1:p.Ala496=
ENST00000414786.6:n.1676C>G
ENST00000445220.5:c.1470C>G	ENSP00000489407.1:p.Ala490=