Canonical Allele Identifier: CA515260004

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720687-A-T
• MyVariant Identifiers: chr22:g.51159115A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720687A>T , CM000684.2:g.50720687A>T	GRCh38
NC_000022.10:g.51159115A>T , CM000684.1:g.51159115A>T	GRCh37
NC_000022.9:g.49505981A>T	NCBI36
NG_008607.2:g.51333A>T
NG_070230.1:g.56471A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2455A>T	ENSP00000489147.2:p.Ser819Cys
ENST00000414786.7:n.3039A>T
ENST00000445220.7:c.1507A>T	ENSP00000489407.2:p.Ser503Cys
ENST00000664402.2:c.997A>T	ENSP00000499475.1:p.Ser333Cys
ENST00000673971.2:c.*1453A>T	ENSP00000501192.1:n.*1453A>T
ENST00000445220.6:c.1507A>T	ENSP00000489407.2:p.Ser503Cys
ENST00000262795.6:c.2455A>T	ENSP00000489147.2:p.Ser819Cys
ENST00000664402.1:c.997A>T	ENSP00000499475.1:p.Ser333Cys
ENST00000673971.1:c.*1453A>T	ENSP00000501192.1:n.*1453A>T
ENST00000262795.5:c.2851A>T	ENSP00000489147.1:p.Ser951Cys
ENST00000414786.6:n.3039A>T
ENST00000445220.5:c.2833A>T	ENSP00000489407.1:p.Ser945Cys