Canonical Allele Identifier: CA515264817

Gene: SHANK3

Linked Data

• dbSNP Id: rs1460923314
• gnomAD v4: 22-50722223-C-T
• MyVariant Identifiers: chr22:g.51160651C>T (hg19) ; chr22:g.50722223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722223C>T , CM000684.2:g.50722223C>T	GRCh38
NC_000022.10:g.51160651C>T , CM000684.1:g.51160651C>T	GRCh37
NC_000022.9:g.49507517C>T	NCBI36
NG_008607.2:g.52869C>T
NG_070230.1:g.58007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3991C>T	ENSP00000489147.2:p.Arg1331Cys
ENST00000414786.7:n.4575C>T
ENST00000445220.7:c.3043C>T	ENSP00000489407.2:p.Arg1015Cys
ENST00000664402.2:c.2533C>T	ENSP00000499475.1:p.Arg845Cys
ENST00000673971.2:c.*2989C>T	ENSP00000501192.1:n.*2989C>T
ENST00000445220.6:c.3043C>T	ENSP00000489407.2:p.Arg1015Cys
ENST00000262795.6:c.3991C>T	ENSP00000489147.2:p.Arg1331Cys
ENST00000664402.1:c.2533C>T	ENSP00000499475.1:p.Arg845Cys
ENST00000673971.1:c.*2989C>T	ENSP00000501192.1:n.*2989C>T
ENST00000262795.5:c.4387C>T	ENSP00000489147.1:p.Arg1463Cys
ENST00000414786.6:n.4575C>T
ENST00000445220.5:c.4369C>T	ENSP00000489407.1:p.Arg1457Cys