Canonical Allele Identifier: CA515262334

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159848T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721420T>A , CM000684.2:g.50721420T>A	GRCh38
NC_000022.10:g.51159848T>A , CM000684.1:g.51159848T>A	GRCh37
NC_000022.9:g.49506714T>A	NCBI36
NG_008607.2:g.52066T>A
NG_070230.1:g.57204T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3188T>A	ENSP00000489147.2:p.Leu1063His
ENST00000414786.7:n.3772T>A
ENST00000445220.7:c.2240T>A	ENSP00000489407.2:p.Leu747His
ENST00000664402.2:c.1730T>A	ENSP00000499475.1:p.Leu577His
ENST00000673971.2:c.*2186T>A	ENSP00000501192.1:n.*2186T>A
ENST00000445220.6:c.2240T>A	ENSP00000489407.2:p.Leu747His
ENST00000262795.6:c.3188T>A	ENSP00000489147.2:p.Leu1063His
ENST00000664402.1:c.1730T>A	ENSP00000499475.1:p.Leu577His
ENST00000673971.1:c.*2186T>A	ENSP00000501192.1:n.*2186T>A
ENST00000262795.5:c.3584T>A	ENSP00000489147.1:p.Leu1195His
ENST00000414786.6:n.3772T>A
ENST00000445220.5:c.3566T>A	ENSP00000489407.1:p.Leu1189His