Canonical Allele Identifier: CA515259714

Gene: SHANK3

Linked Data

• dbSNP Id: rs1250422366
• gnomAD v3: 22-50720591-C-T
• gnomAD v4: 22-50720591-C-T
• MyVariant Identifiers: chr22:g.51159019C>T (hg19) ; chr22:g.50720591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720591C>T , CM000684.2:g.50720591C>T	GRCh38
NC_000022.10:g.51159019C>T , CM000684.1:g.51159019C>T	GRCh37
NC_000022.9:g.49505885C>T	NCBI36
NG_008607.2:g.51237C>T
NG_070230.1:g.56375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2359C>T	ENSP00000489147.2:p.Arg787Cys
ENST00000414786.7:n.2943C>T
ENST00000445220.7:c.1411C>T	ENSP00000489407.2:p.Arg471Cys
ENST00000664402.2:c.901C>T	ENSP00000499475.1:p.Arg301Cys
ENST00000673971.2:c.*1357C>T	ENSP00000501192.1:n.*1357C>T
ENST00000445220.6:c.1411C>T	ENSP00000489407.2:p.Arg471Cys
ENST00000262795.6:c.2359C>T	ENSP00000489147.2:p.Arg787Cys
ENST00000664402.1:c.901C>T	ENSP00000499475.1:p.Arg301Cys
ENST00000673971.1:c.*1357C>T	ENSP00000501192.1:n.*1357C>T
ENST00000262795.5:c.2755C>T	ENSP00000489147.1:p.Arg919Cys
ENST00000414786.6:n.2943C>T
ENST00000445220.5:c.2737C>T	ENSP00000489407.1:p.Arg913Cys