Canonical Allele Identifier: CA515261396

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159615T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721187T>A , CM000684.2:g.50721187T>A	GRCh38
NC_000022.10:g.51159615T>A , CM000684.1:g.51159615T>A	GRCh37
NC_000022.9:g.49506481T>A	NCBI36
NG_008607.2:g.51833T>A
NG_070230.1:g.56971T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2955T>A	ENSP00000489147.2:p.Ala985=
ENST00000414786.7:n.3539T>A
ENST00000445220.7:c.2007T>A	ENSP00000489407.2:p.Ala669=
ENST00000664402.2:c.1497T>A	ENSP00000499475.1:p.Ala499=
ENST00000673971.2:c.*1953T>A	ENSP00000501192.1:n.*1953T>A
ENST00000445220.6:c.2007T>A	ENSP00000489407.2:p.Ala669=
ENST00000262795.6:c.2955T>A	ENSP00000489147.2:p.Ala985=
ENST00000664402.1:c.1497T>A	ENSP00000499475.1:p.Ala499=
ENST00000673971.1:c.*1953T>A	ENSP00000501192.1:n.*1953T>A
ENST00000262795.5:c.3351T>A	ENSP00000489147.1:p.Ala1117=
ENST00000414786.6:n.3539T>A
ENST00000445220.5:c.3333T>A	ENSP00000489407.1:p.Ala1111=