Canonical Allele Identifier: CA515260090

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159146A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720718A>C , CM000684.2:g.50720718A>C	GRCh38
NC_000022.10:g.51159146A>C , CM000684.1:g.51159146A>C	GRCh37
NC_000022.9:g.49506012A>C	NCBI36
NG_008607.2:g.51364A>C
NG_070230.1:g.56502A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2486A>C	ENSP00000489147.2:p.Asp829Ala
ENST00000414786.7:n.3070A>C
ENST00000445220.7:c.1538A>C	ENSP00000489407.2:p.Asp513Ala
ENST00000664402.2:c.1028A>C	ENSP00000499475.1:p.Asp343Ala
ENST00000673971.2:c.*1484A>C	ENSP00000501192.1:n.*1484A>C
ENST00000445220.6:c.1538A>C	ENSP00000489407.2:p.Asp513Ala
ENST00000262795.6:c.2486A>C	ENSP00000489147.2:p.Asp829Ala
ENST00000664402.1:c.1028A>C	ENSP00000499475.1:p.Asp343Ala
ENST00000673971.1:c.*1484A>C	ENSP00000501192.1:n.*1484A>C
ENST00000262795.5:c.2882A>C	ENSP00000489147.1:p.Asp961Ala
ENST00000414786.6:n.3070A>C
ENST00000445220.5:c.2864A>C	ENSP00000489407.1:p.Asp955Ala