Canonical Allele Identifier: CA515262280

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159830A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721402A>T , CM000684.2:g.50721402A>T	GRCh38
NC_000022.10:g.51159830A>T , CM000684.1:g.51159830A>T	GRCh37
NC_000022.9:g.49506696A>T	NCBI36
NG_008607.2:g.52048A>T
NG_070230.1:g.57186A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3170A>T	ENSP00000489147.2:p.Asp1057Val
ENST00000414786.7:n.3754A>T
ENST00000445220.7:c.2222A>T	ENSP00000489407.2:p.Asp741Val
ENST00000664402.2:c.1712A>T	ENSP00000499475.1:p.Asp571Val
ENST00000673971.2:c.*2168A>T	ENSP00000501192.1:n.*2168A>T
ENST00000445220.6:c.2222A>T	ENSP00000489407.2:p.Asp741Val
ENST00000262795.6:c.3170A>T	ENSP00000489147.2:p.Asp1057Val
ENST00000664402.1:c.1712A>T	ENSP00000499475.1:p.Asp571Val
ENST00000673971.1:c.*2168A>T	ENSP00000501192.1:n.*2168A>T
ENST00000262795.5:c.3566A>T	ENSP00000489147.1:p.Asp1189Val
ENST00000414786.6:n.3754A>T
ENST00000445220.5:c.3548A>T	ENSP00000489407.1:p.Asp1183Val