Canonical Allele Identifier: CA515264872

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160669A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722241A>T , CM000684.2:g.50722241A>T	GRCh38
NC_000022.10:g.51160669A>T , CM000684.1:g.51160669A>T	GRCh37
NC_000022.9:g.49507535A>T	NCBI36
NG_008607.2:g.52887A>T
NG_070230.1:g.58025A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.4009A>T	ENSP00000489147.2:p.Arg1337Trp
ENST00000414786.7:n.4593A>T
ENST00000445220.7:c.3061A>T	ENSP00000489407.2:p.Arg1021Trp
ENST00000664402.2:c.2551A>T	ENSP00000499475.1:p.Arg851Trp
ENST00000673971.2:c.*3007A>T	ENSP00000501192.1:n.*3007A>T
ENST00000445220.6:c.3061A>T	ENSP00000489407.2:p.Arg1021Trp
ENST00000262795.6:c.4009A>T	ENSP00000489147.2:p.Arg1337Trp
ENST00000664402.1:c.2551A>T	ENSP00000499475.1:p.Arg851Trp
ENST00000673971.1:c.*3007A>T	ENSP00000501192.1:n.*3007A>T
ENST00000262795.5:c.4405A>T	ENSP00000489147.1:p.Arg1469Trp
ENST00000414786.6:n.4593A>T
ENST00000445220.5:c.4387A>T	ENSP00000489407.1:p.Arg1463Trp