Canonical Allele Identifier: CA325579054

Gene: SHANK3

Linked Data

• dbSNP Id: rs928065328
• MyVariant Identifiers: chr22:g.51159800T>C (hg19) ; chr22:g.50721372T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721372T>C , CM000684.2:g.50721372T>C	GRCh38
NC_000022.10:g.51159800T>C , CM000684.1:g.51159800T>C	GRCh37
NC_000022.9:g.49506666T>C	NCBI36
NG_008607.2:g.52018T>C
NG_070230.1:g.57156T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3140T>C	ENSP00000489147.2:p.Val1047Ala
ENST00000414786.7:n.3724T>C
ENST00000445220.7:c.2192T>C	ENSP00000489407.2:p.Val731Ala
ENST00000664402.2:c.1682T>C	ENSP00000499475.1:p.Val561Ala
ENST00000673971.2:c.*2138T>C	ENSP00000501192.1:n.*2138T>C
ENST00000445220.6:c.2192T>C	ENSP00000489407.2:p.Val731Ala
ENST00000262795.6:c.3140T>C	ENSP00000489147.2:p.Val1047Ala
ENST00000664402.1:c.1682T>C	ENSP00000499475.1:p.Val561Ala
ENST00000673971.1:c.*2138T>C	ENSP00000501192.1:n.*2138T>C
ENST00000262795.5:c.3536T>C	ENSP00000489147.1:p.Val1179Ala
ENST00000414786.6:n.3724T>C
ENST00000445220.5:c.3518T>C	ENSP00000489407.1:p.Val1173Ala