Canonical Allele Identifier: CA515255052

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697637-C-G
• MyVariant Identifiers: chr22:g.51136065C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697637C>G , CM000684.2:g.50697637C>G	GRCh38
NC_000022.10:g.51136065C>G , CM000684.1:g.51136065C>G	GRCh37
NC_000022.9:g.49482931C>G	NCBI36
NG_008607.2:g.28283C>G
NG_070230.1:g.33502C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1021C>G	ENSP00000489147.2:p.Arg341Gly
ENST00000414786.7:n.1605C>G
ENST00000445220.7:c.73C>G	ENSP00000489407.2:p.Arg25Gly
ENST00000673971.2:c.1378C>G	ENSP00000501192.1:p.Arg460Gly
ENST00000445220.6:c.73C>G	ENSP00000489407.2:p.Arg25Gly
ENST00000262795.6:c.1021C>G	ENSP00000489147.2:p.Arg341Gly
ENST00000673971.1:c.1378C>G	ENSP00000501192.1:p.Arg460Gly
ENST00000673995.1:c.74C>G
ENST00000262795.5:c.1417C>G	ENSP00000489147.1:p.Arg473Gly
ENST00000414786.6:n.1605C>G
ENST00000445220.5:c.1399C>G	ENSP00000489407.1:p.Arg467Gly