Canonical Allele Identifier: CA515260740

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159373A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720945A>T , CM000684.2:g.50720945A>T	GRCh38
NC_000022.10:g.51159373A>T , CM000684.1:g.51159373A>T	GRCh37
NC_000022.9:g.49506239A>T	NCBI36
NG_008607.2:g.51591A>T
NG_070230.1:g.56729A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2713A>T	ENSP00000489147.2:p.Ser905Cys
ENST00000414786.7:n.3297A>T
ENST00000445220.7:c.1765A>T	ENSP00000489407.2:p.Ser589Cys
ENST00000664402.2:c.1255A>T	ENSP00000499475.1:p.Ser419Cys
ENST00000673971.2:c.*1711A>T	ENSP00000501192.1:n.*1711A>T
ENST00000445220.6:c.1765A>T	ENSP00000489407.2:p.Ser589Cys
ENST00000262795.6:c.2713A>T	ENSP00000489147.2:p.Ser905Cys
ENST00000664402.1:c.1255A>T	ENSP00000499475.1:p.Ser419Cys
ENST00000673971.1:c.*1711A>T	ENSP00000501192.1:n.*1711A>T
ENST00000262795.5:c.3109A>T	ENSP00000489147.1:p.Ser1037Cys
ENST00000414786.6:n.3297A>T
ENST00000445220.5:c.3091A>T	ENSP00000489407.1:p.Ser1031Cys