Canonical Allele Identifier: CA515261250

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159561A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721133A>T , CM000684.2:g.50721133A>T	GRCh38
NC_000022.10:g.51159561A>T , CM000684.1:g.51159561A>T	GRCh37
NC_000022.9:g.49506427A>T	NCBI36
NG_008607.2:g.51779A>T
NG_070230.1:g.56917A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2901A>T	ENSP00000489147.2:p.Lys967Asn
ENST00000414786.7:n.3485A>T
ENST00000445220.7:c.1953A>T	ENSP00000489407.2:p.Lys651Asn
ENST00000664402.2:c.1443A>T	ENSP00000499475.1:p.Lys481Asn
ENST00000673971.2:c.*1899A>T	ENSP00000501192.1:n.*1899A>T
ENST00000445220.6:c.1953A>T	ENSP00000489407.2:p.Lys651Asn
ENST00000262795.6:c.2901A>T	ENSP00000489147.2:p.Lys967Asn
ENST00000664402.1:c.1443A>T	ENSP00000499475.1:p.Lys481Asn
ENST00000673971.1:c.*1899A>T	ENSP00000501192.1:n.*1899A>T
ENST00000262795.5:c.3297A>T	ENSP00000489147.1:p.Lys1099Asn
ENST00000414786.6:n.3485A>T
ENST00000445220.5:c.3279A>T	ENSP00000489407.1:p.Lys1093Asn