Canonical Allele Identifier: CA515264785

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160641T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722213T>A , CM000684.2:g.50722213T>A	GRCh38
NC_000022.10:g.51160641T>A , CM000684.1:g.51160641T>A	GRCh37
NC_000022.9:g.49507507T>A	NCBI36
NG_008607.2:g.52859T>A
NG_070230.1:g.57997T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3981T>A	ENSP00000489147.2:p.Pro1327=
ENST00000414786.7:n.4565T>A
ENST00000445220.7:c.3033T>A	ENSP00000489407.2:p.Pro1011=
ENST00000664402.2:c.2523T>A	ENSP00000499475.1:p.Pro841=
ENST00000673971.2:c.*2979T>A	ENSP00000501192.1:n.*2979T>A
ENST00000445220.6:c.3033T>A	ENSP00000489407.2:p.Pro1011=
ENST00000262795.6:c.3981T>A	ENSP00000489147.2:p.Pro1327=
ENST00000664402.1:c.2523T>A	ENSP00000499475.1:p.Pro841=
ENST00000673971.1:c.*2979T>A	ENSP00000501192.1:n.*2979T>A
ENST00000262795.5:c.4377T>A	ENSP00000489147.1:p.Pro1459=
ENST00000414786.6:n.4565T>A
ENST00000445220.5:c.4359T>A	ENSP00000489407.1:p.Pro1453=