Canonical Allele Identifier: CA10326125

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721593C>T , CM000684.2:g.50721593C>T	GRCh38
NC_000022.10:g.51160021C>T , CM000684.1:g.51160021C>T	GRCh37
NC_000022.9:g.49506887C>T	NCBI36
NG_008607.2:g.52239C>T
NG_070230.1:g.57377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.3757C>T	ENSP00000489147.1:p.Pro1253Ser
ENST00000262795.6:c.3361C>T	ENSP00000489147.2:p.Pro1121Ser
ENST00000262795.7:c.3361C>T	ENSP00000489147.2:p.Pro1121Ser
ENST00000414786.6:n.3945C>T
ENST00000414786.7:n.3945C>T
ENST00000445220.5:c.3739C>T	ENSP00000489407.1:p.Pro1247Ser
ENST00000445220.6:c.2413C>T	ENSP00000489407.2:p.Pro805Ser
ENST00000445220.7:c.2413C>T	ENSP00000489407.2:p.Pro805Ser
ENST00000664402.1:c.1903C>T	ENSP00000499475.1:p.Pro635Ser
ENST00000664402.2:c.1903C>T	ENSP00000499475.1:p.Pro635Ser
ENST00000673971.1:c.*2359C>T	ENSP00000501192.1:n.*2359C>T
ENST00000673971.2:c.*2359C>T	ENSP00000501192.1:n.*2359C>T