Canonical Allele Identifier: CA515259255

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51158862T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720434T>A , CM000684.2:g.50720434T>A	GRCh38
NC_000022.10:g.51158862T>A , CM000684.1:g.51158862T>A	GRCh37
NC_000022.9:g.49505728T>A	NCBI36
NG_008607.2:g.51080T>A
NG_070230.1:g.56218T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2202T>A	ENSP00000489147.2:p.Ala734=
ENST00000414786.7:n.2786T>A
ENST00000445220.7:c.1254T>A	ENSP00000489407.2:p.Ala418=
ENST00000664402.2:c.744T>A	ENSP00000499475.1:p.Ala248=
ENST00000673971.2:c.*1200T>A	ENSP00000501192.1:n.*1200T>A
ENST00000445220.6:c.1254T>A	ENSP00000489407.2:p.Ala418=
ENST00000262795.6:c.2202T>A	ENSP00000489147.2:p.Ala734=
ENST00000664402.1:c.744T>A	ENSP00000499475.1:p.Ala248=
ENST00000673971.1:c.*1200T>A	ENSP00000501192.1:n.*1200T>A
ENST00000262795.5:c.2598T>A	ENSP00000489147.1:p.Ala866=
ENST00000414786.6:n.2786T>A
ENST00000445220.5:c.2580T>A	ENSP00000489407.1:p.Ala860=