Canonical Allele Identifier: CA515262811

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159973G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721545G>C , CM000684.2:g.50721545G>C	GRCh38
NC_000022.10:g.51159973G>C , CM000684.1:g.51159973G>C	GRCh37
NC_000022.9:g.49506839G>C	NCBI36
NG_008607.2:g.52191G>C
NG_070230.1:g.57329G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3313G>C	ENSP00000489147.2:p.Ala1105Pro
ENST00000414786.7:n.3897G>C
ENST00000445220.7:c.2365G>C	ENSP00000489407.2:p.Ala789Pro
ENST00000664402.2:c.1855G>C	ENSP00000499475.1:p.Ala619Pro
ENST00000673971.2:c.*2311G>C	ENSP00000501192.1:n.*2311G>C
ENST00000445220.6:c.2365G>C	ENSP00000489407.2:p.Ala789Pro
ENST00000262795.6:c.3313G>C	ENSP00000489147.2:p.Ala1105Pro
ENST00000664402.1:c.1855G>C	ENSP00000499475.1:p.Ala619Pro
ENST00000673971.1:c.*2311G>C	ENSP00000501192.1:n.*2311G>C
ENST00000262795.5:c.3709G>C	ENSP00000489147.1:p.Ala1237Pro
ENST00000414786.6:n.3897G>C
ENST00000445220.5:c.3691G>C	ENSP00000489407.1:p.Ala1231Pro