Canonical Allele Identifier: CA515262557

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159901G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721473G>C , CM000684.2:g.50721473G>C	GRCh38
NC_000022.10:g.51159901G>C , CM000684.1:g.51159901G>C	GRCh37
NC_000022.9:g.49506767G>C	NCBI36
NG_008607.2:g.52119G>C
NG_070230.1:g.57257G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3241G>C	ENSP00000489147.2:p.Ala1081Pro
ENST00000414786.7:n.3825G>C
ENST00000445220.7:c.2293G>C	ENSP00000489407.2:p.Ala765Pro
ENST00000664402.2:c.1783G>C	ENSP00000499475.1:p.Ala595Pro
ENST00000673971.2:c.*2239G>C	ENSP00000501192.1:n.*2239G>C
ENST00000445220.6:c.2293G>C	ENSP00000489407.2:p.Ala765Pro
ENST00000262795.6:c.3241G>C	ENSP00000489147.2:p.Ala1081Pro
ENST00000664402.1:c.1783G>C	ENSP00000499475.1:p.Ala595Pro
ENST00000673971.1:c.*2239G>C	ENSP00000501192.1:n.*2239G>C
ENST00000262795.5:c.3637G>C	ENSP00000489147.1:p.Ala1213Pro
ENST00000414786.6:n.3825G>C
ENST00000445220.5:c.3619G>C	ENSP00000489407.1:p.Ala1207Pro