Canonical Allele Identifier: CA515264277

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160474T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722046T>A , CM000684.2:g.50722046T>A	GRCh38
NC_000022.10:g.51160474T>A , CM000684.1:g.51160474T>A	GRCh37
NC_000022.9:g.49507340T>A	NCBI36
NG_008607.2:g.52692T>A
NG_070230.1:g.57830T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3814T>A	ENSP00000489147.2:p.Phe1272Ile
ENST00000414786.7:n.4398T>A
ENST00000445220.7:c.2866T>A	ENSP00000489407.2:p.Phe956Ile
ENST00000664402.2:c.2356T>A	ENSP00000499475.1:p.Phe786Ile
ENST00000673971.2:c.*2812T>A	ENSP00000501192.1:n.*2812T>A
ENST00000445220.6:c.2866T>A	ENSP00000489407.2:p.Phe956Ile
ENST00000262795.6:c.3814T>A	ENSP00000489147.2:p.Phe1272Ile
ENST00000664402.1:c.2356T>A	ENSP00000499475.1:p.Phe786Ile
ENST00000673971.1:c.*2812T>A	ENSP00000501192.1:n.*2812T>A
ENST00000262795.5:c.4210T>A	ENSP00000489147.1:p.Phe1404Ile
ENST00000414786.6:n.4398T>A
ENST00000445220.5:c.4192T>A	ENSP00000489407.1:p.Phe1398Ile