Canonical Allele Identifier: CA515267335

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51169477C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731049C>T , CM000684.2:g.50731049C>T	GRCh38
NC_000022.10:g.51169477C>T , CM000684.1:g.51169477C>T	GRCh37
NC_000022.9:g.49516343C>T	NCBI36
NG_008607.2:g.61695C>T
NG_070230.1:g.66833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4561C>T	ENSP00000489147.2:p.Pro1521Ser
ENST00000414786.7:n.5145C>T
ENST00000445220.7:c.3613C>T	ENSP00000489407.2:p.Pro1205Ser
ENST00000664402.2:c.3103C>T	ENSP00000499475.1:p.Pro1035Ser
ENST00000673971.2:c.*3559C>T	ENSP00000501192.1:n.*3559C>T
ENST00000445220.6:c.3613C>T	ENSP00000489407.2:p.Pro1205Ser
ENST00000262795.6:c.4561C>T	ENSP00000489147.2:p.Pro1521Ser
ENST00000659388.1:c.376C>T	ENSP00000499632.1:p.Pro126Ser
ENST00000664402.1:c.3103C>T	ENSP00000499475.1:p.Pro1035Ser
ENST00000673971.1:c.*3559C>T	ENSP00000501192.1:n.*3559C>T
ENST00000262795.5:c.4930C>T	ENSP00000489147.1:p.Pro1644Ser
ENST00000414786.6:n.5145C>T
ENST00000445220.5:c.4912C>T	ENSP00000489407.1:p.Pro1638Ser