Canonical Allele Identifier: CA515262136

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159787G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721359G>T , CM000684.2:g.50721359G>T	GRCh38
NC_000022.10:g.51159787G>T , CM000684.1:g.51159787G>T	GRCh37
NC_000022.9:g.49506653G>T	NCBI36
NG_008607.2:g.52005G>T
NG_070230.1:g.57143G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3127G>T	ENSP00000489147.2:p.Glu1043Ter
ENST00000414786.7:n.3711G>T
ENST00000445220.7:c.2179G>T	ENSP00000489407.2:p.Glu727Ter
ENST00000664402.2:c.1669G>T	ENSP00000499475.1:p.Glu557Ter
ENST00000673971.2:c.*2125G>T	ENSP00000501192.1:n.*2125G>T
ENST00000445220.6:c.2179G>T	ENSP00000489407.2:p.Glu727Ter
ENST00000262795.6:c.3127G>T	ENSP00000489147.2:p.Glu1043Ter
ENST00000664402.1:c.1669G>T	ENSP00000499475.1:p.Glu557Ter
ENST00000673971.1:c.*2125G>T	ENSP00000501192.1:n.*2125G>T
ENST00000262795.5:c.3523G>T	ENSP00000489147.1:p.Glu1175Ter
ENST00000414786.6:n.3711G>T
ENST00000445220.5:c.3505G>T	ENSP00000489407.1:p.Glu1169Ter