Canonical Allele Identifier: CA515260622

Gene: SHANK3

Linked Data

• dbSNP Id: rs2146830395
• gnomAD v4: 22-50720903-C-T
• MyVariant Identifiers: chr22:g.51159331C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720903C>T , CM000684.2:g.50720903C>T	GRCh38
NC_000022.10:g.51159331C>T , CM000684.1:g.51159331C>T	GRCh37
NC_000022.9:g.49506197C>T	NCBI36
NG_008607.2:g.51549C>T
NG_070230.1:g.56687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2671C>T	ENSP00000489147.2:p.Arg891Cys
ENST00000414786.7:n.3255C>T
ENST00000445220.7:c.1723C>T	ENSP00000489407.2:p.Arg575Cys
ENST00000664402.2:c.1213C>T	ENSP00000499475.1:p.Arg405Cys
ENST00000673971.2:c.*1669C>T	ENSP00000501192.1:n.*1669C>T
ENST00000445220.6:c.1723C>T	ENSP00000489407.2:p.Arg575Cys
ENST00000262795.6:c.2671C>T	ENSP00000489147.2:p.Arg891Cys
ENST00000664402.1:c.1213C>T	ENSP00000499475.1:p.Arg405Cys
ENST00000673971.1:c.*1669C>T	ENSP00000501192.1:n.*1669C>T
ENST00000262795.5:c.3067C>T	ENSP00000489147.1:p.Arg1023Cys
ENST00000414786.6:n.3255C>T
ENST00000445220.5:c.3049C>T	ENSP00000489407.1:p.Arg1017Cys