Canonical Allele Identifier: CA515259986

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720681-C-T
• MyVariant Identifiers: chr22:g.51159109C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720681C>T , CM000684.2:g.50720681C>T	GRCh38
NC_000022.10:g.51159109C>T , CM000684.1:g.51159109C>T	GRCh37
NC_000022.9:g.49505975C>T	NCBI36
NG_008607.2:g.51327C>T
NG_070230.1:g.56465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2449C>T	ENSP00000489147.2:p.Arg817Cys
ENST00000414786.7:n.3033C>T
ENST00000445220.7:c.1501C>T	ENSP00000489407.2:p.Arg501Cys
ENST00000664402.2:c.991C>T	ENSP00000499475.1:p.Arg331Cys
ENST00000673971.2:c.*1447C>T	ENSP00000501192.1:n.*1447C>T
ENST00000445220.6:c.1501C>T	ENSP00000489407.2:p.Arg501Cys
ENST00000262795.6:c.2449C>T	ENSP00000489147.2:p.Arg817Cys
ENST00000664402.1:c.991C>T	ENSP00000499475.1:p.Arg331Cys
ENST00000673971.1:c.*1447C>T	ENSP00000501192.1:n.*1447C>T
ENST00000262795.5:c.2845C>T	ENSP00000489147.1:p.Arg949Cys
ENST00000414786.6:n.3033C>T
ENST00000445220.5:c.2827C>T	ENSP00000489407.1:p.Arg943Cys