Canonical Allele Identifier: CA515260725

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159368A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720940A>T , CM000684.2:g.50720940A>T	GRCh38
NC_000022.10:g.51159368A>T , CM000684.1:g.51159368A>T	GRCh37
NC_000022.9:g.49506234A>T	NCBI36
NG_008607.2:g.51586A>T
NG_070230.1:g.56724A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2708A>T	ENSP00000489147.2:p.Glu903Val
ENST00000414786.7:n.3292A>T
ENST00000445220.7:c.1760A>T	ENSP00000489407.2:p.Glu587Val
ENST00000664402.2:c.1250A>T	ENSP00000499475.1:p.Glu417Val
ENST00000673971.2:c.*1706A>T	ENSP00000501192.1:n.*1706A>T
ENST00000445220.6:c.1760A>T	ENSP00000489407.2:p.Glu587Val
ENST00000262795.6:c.2708A>T	ENSP00000489147.2:p.Glu903Val
ENST00000664402.1:c.1250A>T	ENSP00000499475.1:p.Glu417Val
ENST00000673971.1:c.*1706A>T	ENSP00000501192.1:n.*1706A>T
ENST00000262795.5:c.3104A>T	ENSP00000489147.1:p.Glu1035Val
ENST00000414786.6:n.3292A>T
ENST00000445220.5:c.3086A>T	ENSP00000489407.1:p.Glu1029Val