Canonical Allele Identifier: CA515261380

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159608A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721180A>T , CM000684.2:g.50721180A>T	GRCh38
NC_000022.10:g.51159608A>T , CM000684.1:g.51159608A>T	GRCh37
NC_000022.9:g.49506474A>T	NCBI36
NG_008607.2:g.51826A>T
NG_070230.1:g.56964A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2948A>T	ENSP00000489147.2:p.Glu983Val
ENST00000414786.7:n.3532A>T
ENST00000445220.7:c.2000A>T	ENSP00000489407.2:p.Glu667Val
ENST00000664402.2:c.1490A>T	ENSP00000499475.1:p.Glu497Val
ENST00000673971.2:c.*1946A>T	ENSP00000501192.1:n.*1946A>T
ENST00000445220.6:c.2000A>T	ENSP00000489407.2:p.Glu667Val
ENST00000262795.6:c.2948A>T	ENSP00000489147.2:p.Glu983Val
ENST00000664402.1:c.1490A>T	ENSP00000499475.1:p.Glu497Val
ENST00000673971.1:c.*1946A>T	ENSP00000501192.1:n.*1946A>T
ENST00000262795.5:c.3344A>T	ENSP00000489147.1:p.Glu1115Val
ENST00000414786.6:n.3532A>T
ENST00000445220.5:c.3326A>T	ENSP00000489407.1:p.Glu1109Val