Canonical Allele Identifier: CA515258581

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51158649C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720221C>T , CM000684.2:g.50720221C>T	GRCh38
NC_000022.10:g.51158649C>T , CM000684.1:g.51158649C>T	GRCh37
NC_000022.9:g.49505515C>T	NCBI36
NG_008607.2:g.50867C>T
NG_070230.1:g.56005C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1989C>T	ENSP00000489147.2:p.Arg663=
ENST00000414786.7:n.2573C>T
ENST00000445220.7:c.1041C>T	ENSP00000489407.2:p.Arg347=
ENST00000664402.2:c.531C>T	ENSP00000499475.1:p.Arg177=
ENST00000673971.2:c.*987C>T	ENSP00000501192.1:n.*987C>T
ENST00000445220.6:c.1041C>T	ENSP00000489407.2:p.Arg347=
ENST00000262795.6:c.1989C>T	ENSP00000489147.2:p.Arg663=
ENST00000664402.1:c.531C>T	ENSP00000499475.1:p.Arg177=
ENST00000673971.1:c.*987C>T	ENSP00000501192.1:n.*987C>T
ENST00000262795.5:c.2385C>T	ENSP00000489147.1:p.Arg795=
ENST00000414786.6:n.2573C>T
ENST00000445220.5:c.2367C>T	ENSP00000489407.1:p.Arg789=