Canonical Allele Identifier: CA515255083

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697648-C-A
• MyVariant Identifiers: chr22:g.51136076C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697648C>A , CM000684.2:g.50697648C>A	GRCh38
NC_000022.10:g.51136076C>A , CM000684.1:g.51136076C>A	GRCh37
NC_000022.9:g.49482942C>A	NCBI36
NG_008607.2:g.28294C>A
NG_070230.1:g.33513C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1032C>A	ENSP00000489147.2:p.Ile344=
ENST00000414786.7:n.1616C>A
ENST00000445220.7:c.84C>A	ENSP00000489407.2:p.Ile28=
ENST00000673971.2:c.1389C>A	ENSP00000501192.1:p.Ile463=
ENST00000445220.6:c.84C>A	ENSP00000489407.2:p.Ile28=
ENST00000262795.6:c.1032C>A	ENSP00000489147.2:p.Ile344=
ENST00000673971.1:c.1389C>A	ENSP00000501192.1:p.Ile463=
ENST00000673995.1:c.85C>A
ENST00000262795.5:c.1428C>A	ENSP00000489147.1:p.Ile476=
ENST00000414786.6:n.1616C>A
ENST00000445220.5:c.1410C>A	ENSP00000489407.1:p.Ile470=