Canonical Allele Identifier: CA515263761

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1695708
• ClinVar RCV Id: RCV002265343
• dbSNP Id: rs1398660041
• MyVariant Identifiers: chr22:g.51160300C>T (hg19) ; chr22:g.50721872C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721872C>T , CM000684.2:g.50721872C>T	GRCh38
NC_000022.10:g.51160300C>T , CM000684.1:g.51160300C>T	GRCh37
NC_000022.9:g.49507166C>T	NCBI36
NG_008607.2:g.52518C>T
NG_070230.1:g.57656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3640C>T	ENSP00000489147.2:p.Pro1214Ser
ENST00000414786.7:n.4224C>T
ENST00000445220.7:c.2692C>T	ENSP00000489407.2:p.Pro898Ser
ENST00000664402.2:c.2182C>T	ENSP00000499475.1:p.Pro728Ser
ENST00000673971.2:c.*2638C>T	ENSP00000501192.1:n.*2638C>T
ENST00000445220.6:c.2692C>T	ENSP00000489407.2:p.Pro898Ser
ENST00000262795.6:c.3640C>T	ENSP00000489147.2:p.Pro1214Ser
ENST00000664402.1:c.2182C>T	ENSP00000499475.1:p.Pro728Ser
ENST00000673971.1:c.*2638C>T	ENSP00000501192.1:n.*2638C>T
ENST00000262795.5:c.4036C>T	ENSP00000489147.1:p.Pro1346Ser
ENST00000414786.6:n.4224C>T
ENST00000445220.5:c.4018C>T	ENSP00000489407.1:p.Pro1340Ser